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Academic literature on the topic 'Autosomal recessive disorders'

Author: Grafiati

Published: 4 June 2021

Last updated: 9 February 2022

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Journal articles on the topic "Autosomal recessive disorders"

May, A. "Autosomal recessive disorders." BMJ 298, no. 6676 (March 25, 1989): 830. http://dx.doi.org/10.1136/bmj.298.6676.830-c.

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Mokhtar, M. M., S. M. Kotb, and S. R. Ismail. "Autosomal recessive disorders among patients attending the genetics clinic in Alexandria." Eastern Mediterranean Health Journal 4, no. 3 (May 15, 1998): 470–79. http://dx.doi.org/10.26719/1998.4.3.470.

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A total of 660 patients referred to the genetics clinic, Medical Research Institute, Alexandria were assessed to determine the frequency of genetic disorders and the proportion of autosomal recessive disorders. It was found that 298 [45.2%] patients had genetic disorders, 100 [33.6%] of whom had an autosomal recessive disorder;these included 32 patients with metabolic defects, 18 with haemoglobinopathies and 50 with syndromes and single defects. The frequency of consanguinity among parents of patients with autosomal recessive disorders was high [60%, with 48% first cousins]. The average inbreeding coefficient was higher [0.03] than that reported for the Egyptian population in general [0.01] A total of 660 patients referred to the genetics clinic, Medical Research Institute, Alexandria were assessed to determine the frequency of genetic disorders and the proportion of autosomal recessive disorders. It was found that 298 [45.2%] patients had genetic disorders, 100 [33.6%] of whom had an autosomal recessive disorder;these included 32 patients with metabolic defects, 18 with haemoglobinopathies and 50 with syndromes and single defects. The frequency of consanguinity among parents of patients with autosomal recessive disorders was high [60%, with 48% first cousins]. The average inbreeding coefficient was higher [0.03] than that reported for the Egyptian population in general [0.01]

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Landfeldt, Erik. "Consanguinity and autosomal recessive neuromuscular disorders." Developmental Medicine & Child Neurology 58, no. 8 (March 17, 2016): 796–97. http://dx.doi.org/10.1111/dmcn.13112.

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Vallance, Hilary, and Jason Ford. "Carrier Testing for Autosomal- Recessive Disorders." Critical Reviews in Clinical Laboratory Sciences 40, no. 4 (January 2003): 473–97. http://dx.doi.org/10.1080/10408360390247832.

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Bundey, S., and I. D. Young. "Low segregation ratios in autosomal recessive disorders." Journal of Medical Genetics 30, no. 6 (June 1, 1993): 449–51. http://dx.doi.org/10.1136/jmg.30.6.449.

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Oosterwijk, J. C. "Low segregation ratios in autosomal recessive disorders." Journal of Medical Genetics 31, no. 1 (January 1, 1994): 85–86. http://dx.doi.org/10.1136/jmg.31.1.85-b.

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Ohishi, Masamichi, Sadako Kai, Satoru Ozeki, and Hideo Tashiro. "Alveolar synechia, ankyloblepharon, and ectodermal disorders: An autosomal recessive disorder?" American Journal of Medical Genetics 38, no. 1 (January 1, 1991): 13–15. http://dx.doi.org/10.1002/ajmg.1320380104.

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Bastioli, Guendalina, Maria Regoni, Federico Cazzaniga, Chiara Maria Giulia De Luca, Edoardo Bistaffa, Letizia Zanetti, Fabio Moda, Flavia Valtorta, and Jenny Sassone. "Animal Models of Autosomal Recessive Parkinsonism." Biomedicines 9, no. 7 (July 13, 2021): 812. http://dx.doi.org/10.3390/biomedicines9070812.

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Parkinson’s disease (PD) is the most common neurodegenerative movement disorder. The neuropathological hallmark of the disease is the loss of dopamine neurons of the substantia nigra pars compacta. The clinical manifestations of PD are bradykinesia, rigidity, resting tremors and postural instability. PD patients often display non-motor symptoms such as depression, anxiety, weakness, sleep disturbances and cognitive disorders. Although, in 90% of cases, PD has a sporadic onset of unknown etiology, highly penetrant rare genetic mutations in many genes have been linked with typical familial PD. Understanding the mechanisms behind the DA neuron death in these Mendelian forms may help to illuminate the pathogenesis of DA neuron degeneration in the more common forms of PD. A key step in the identification of the molecular pathways underlying DA neuron death, and in the development of therapeutic strategies, is the creation and characterization of animal models that faithfully recapitulate the human disease. In this review, we outline the current status of PD modeling using mouse, rat and non-mammalian models, focusing on animal models for autosomal recessive PD.

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Quelle-Regaldie, Ana, Daniel Sobrido-Cameán, Antón Barreiro-Iglesias, María Jesús Sobrido, and Laura Sánchez. "Zebrafish Models of Autosomal Recessive Ataxias." Cells 10, no. 4 (April 8, 2021): 836. http://dx.doi.org/10.3390/cells10040836.

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Autosomal recessive ataxias are much less well studied than autosomal dominant ataxias and there are no clearly defined systems to classify them. Autosomal recessive ataxias, which are characterized by neuronal and multisystemic features, have significant overlapping symptoms with other complex multisystemic recessive disorders. The generation of animal models of neurodegenerative disorders increases our knowledge of their cellular and molecular mechanisms and helps in the search for new therapies. Among animal models, the zebrafish, which shares 70% of its genome with humans, offer the advantages of being small in size and demonstrating rapid development, making them optimal for high throughput drug and genetic screening. Furthermore, embryo and larval transparency allows to visualize cellular processes and central nervous system development in vivo. In this review, we discuss the contributions of zebrafish models to the study of autosomal recessive ataxias characteristic phenotypes, behavior, and gene function, in addition to commenting on possible treatments found in these models. Most of the zebrafish models generated to date recapitulate the main features of recessive ataxias.

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Mueller, R. F., and D. T. Bishop. "Autozygosity mapping, complex consanguinity, and autosomal recessive disorders." Journal of Medical Genetics 30, no. 9 (September 1, 1993): 798–99. http://dx.doi.org/10.1136/jmg.30.9.798.

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Dissertations / Theses on the topic "Autosomal recessive disorders"

Kurian, Manju Ann. "Molecular genetic investigation of autosomal recessive neurodevelopmental disorders." Thesis, University of Birmingham, 2010. http://etheses.bham.ac.uk//id/eprint/1126/.

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Development of the human brain occurs in a number of complex pre- and postnatal stages which are governed by both genetic and environmental factors. Aberrant brain development due to inherited defects may result in a wide spectrum of neurological disorders which are commonly encountered in the clinical field of paediatric neurology. In the work for this thesis, I have investigated the molecular basis and defined the clinical features of three autosomal recessive neurological syndromes. I studied a cohort of children with early onset epileptic encephalopathy and, in one family, identified a novel homozygous pathogenic mutation of PLCB1. I have also utilised autozygosity mapping techniques to study consanguineous families with a complex motor disorder, infantile parkinsonism-dystonia, and identified loss-of function mutations in the gene encoding the dopamine transporter (SLC6A3). Subsequent acquisition of a cohort of similarly affected children allowed detailed clinical and molecular characterisation of this novel disorder, dopamine transporter deficiency syndrome. Finally I have delineated the clinical and genetic features of PLA2G6-associated neurodegeneration. The identification of disease-causing genes contributes greatly to understanding the disease mechanisms underlying such early-onset disorders, and also provides novel insights into normal human neurodevelopment.

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Alsaedi, Atif Saud. "Exome sequencing analysis of rare autosomal recessive disorders." Thesis, University of Birmingham, 2017. http://etheses.bham.ac.uk//id/eprint/7700/.

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Since the human genome project was completed in 2003, extraordinary progress has been made in the field of genomics with the development of new sequencing technologies and the widespread introduction of next generation sequencing (NGS). The application of NGS initiated a new era in genomics by massively increasing the number and diversity of the sequenced genomes at lower cost. Human Molecular Genetics has greatly benefited from the use of NGS-based strategies to identify human disease genes. In this thesis, I investigated the application of genetic techniques to investigate the molecular basis of autosomal recessively inherited disorders of unknown etiology. A range of disease phenotypes, including oligodontia and fetal akinesia/multiple pterygium syndrome (FA/MPS), were investigated in patient cohorts that included many cases with parental consanguinity. Using an autozygosity linkage analysis-based approach and Sanger sequencing of candidate genes resulted in the identification germline RYR1 mutations in FA/MPS. Subsequently, using exome sequencing techniques, the molecular basis of FA/MPS was further elucidated by the identification of germline mutations in RYR1, NEB, CHRNG, CHRNA1 and TPM2. The application of NGS in genetically heterogeneous disorders such as fetal akinesia/multiple pterygium syndrome can enable better and less expensive molecular diagnostic services aimed at specific mutation spectra, though more extensive sequencing can lead to the identification of larger numbers of variants of uncertain significance.

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Bochukova, Elena G. "Expression of Wilson's disease genomic locus." Thesis, University of Oxford, 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.275361.

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Alrayes, Nuha Mohammad. "Mutation analysis of autosomal recessive neurological disorders in consanguineous families from Saudi Arabia." Thesis, St George's, University of London, 2017. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.719148.

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The focus of this research project is the fundamentally important discovery of genetic mutations present in the Saudi Arabian population, concentrating mainly on offspring with neurological autosomal recessive disorders resulting from consanguineous marriages. The objective is to identify pathogenic gene variantsin known, novel, and potential candidate genes. In this research, microarrays were used for genome-wide homozygosity mapping to locate regions of homozygosity. This technique was followed with whole-exome sequencing to identify the causative gene located within the detected homozygous region, and the Sanger sequencing confirmed the mutations. Consanguineous families who presented at the paediatric or genetic clinics with two or more children having a neurological disorder were recruited, including the healthy parents, siblings, and other family members. Five candidate families have been recruited in this study. One family is a hereditary spastic paraplegia case with four affected children. Another family with two affected children of Perrault syndrome phenotype. Two more families who have children with microcephaly. In addition to three children of intellectual disability in one family. We have identified a DDHD2 truncating mutation in the first family and novel pathogenic variant of CLPP in the second family. In addition to AGMO gene alteration and previously reported stop-gain mutation in ASPM in the microcephaly families. Furthermore, the highlight of 5 candidate genes (ALKBH8, ANKK1, AMOTL1, TRAPPC6A and RSPH6CA) were found to be related to an intellectual disability phenotype. Further investigation by western blotting showed a difference in stability between normal and mutant proteins for both TRAPPC6A and AM0TL1. These are considered to be new findings for this intellectual disability phenotype.

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Dahlqvist, Johanna. "Genetic and Molecular Studies of Two Hereditary Skin Disorders." Doctoral thesis, Uppsala universitet, Institutionen för immunologi, genetik och patologi, 2011. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-149185.

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Monogenic disorders, i.e., disorders caused by mutations in a single gene, are rare and clinically heterogeneous conditions. Identification of the genetic cause of monogenic traits can bring new insights into molecular pathways and disease mechanisms. The aims of the present study were to identify the mutant genes in two autosomal recessive skin disorders and to characterize the functions of the mutated genes. In order to identify candidate genes for the two disorders whole-genome SNP analysis, homozygosity mapping and gene sequencing were used. Autosomal recessive congenital ichthyosis (ARCI) is a group of disorders characterized by extensive scaling and redness of the skin. A subgroup of ARCI patients (n=27) was selected based on specific ultrastructural aberrations in their skin, revealed by electron microscopy. Mutations were identified in the Ichthyin gene in 93% of the selected patients, indicating a strong association between mutant Ichthyin and the specific morphological abnormalities. Ichthyin mRNA levels were shown to increase during keratinocyte differentiation in cells from healthy and affected individuals. Electron microscopy revealed a localization of ichthyin protein to keratins and desmosomes in epidermis. Staining of epidermal lipids identified aberrant lipid aggregates in skin sections of patients with Ichthyin mutations, indicating a role for Ichthyin in epidermal lipid metabolism. In twelve KLICK syndrome patients with ichthyosis, palmoplantar keratoderma and keratotic striae on joints, a single-nucleotide deletion was identified in the 5’ region of the proteasome maturation protein (POMP) gene. The deletion caused an increase in the proportion of POMP transcripts with long 5’ UTR’s in patient keratinocytes. Immunohistochemical analysis of differentiated skin cell layers revealed aberrant expression of POMP, proteasome subunits and the skin protein filaggrin in patients. CHOP expression, associated with endoplasmic reticulum stress, was increased in the same layers. siRNA silencing of POMP in cell cultures reduced proteasome subunit levels and induced expression of CHOP. The results indicate that the mutation in KLICK patients causes POMP and proteasome insufficiency with subsequent cellular stress. This study conclusively contributes to the understanding of epidermal physiology and the pathogenesis of two inherited skin diseases.

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Elbaghir, Omer Elsayed Liena. "Hereditary spastic paraplegias : clinical spectrum in Sudan, further deciphering of the molecular bases of autosomal recessive forms and new genes emerging." Thesis, Paris 6, 2016. http://www.theses.fr/2016PA066056/document.

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Les paraplégies spastiques héréditaires (PSH) font partie d’un groupe plus large de pathologies neurodégénératives associant une spasticité. J’ai exploré la variabilité clinique et moléculaire de ces pathologies à l’aide d’une cohorte de familles soudanaises. Nous avons recruté 41 familles soudanaises [337 individus/106 atteints de PSH]. J’ai extrait l’ADN génomique et constitué une banque. Le criblage de gènes candidats a été réalisé dans 4 familles en fonction du phénotype des patients. La technologie de séquençage de nouvelle génération (SNG) appliquée à 74 gènes de PSH a ensuite été appliquée aux 37 cas restants. Enfin, le séquençage de l’exome a permis de rechercher les gènes en cause dans les cas négatifs. Dans certains cas, des études fonctionnelles ont été utilisées afin de valider l’effet biologique des mutations. J’ai pu identifier la cause génétique dans 17 familles. Dans 12 familles, la mutation concernait un gène de PSH connu. Dans 3 familles, un nouveau gène a été identifié. 5 gènes candidats restent à départager dans 2 familles. Il est à noter que parfois, de multiple mutations ou maladies génétiques ségrégaient dans nos familles, dans la même branche ou dans des branches séparées. La complexité de ces familles fortement consanguines a rendu l’analyse des données du SNG difficile. Une autre particularité a été l’hétérogénéité clinique associée à des mutations du même gène entre patients de la même famille ou en comparaison avec la littérature. Ce travail est la première étude à grande échelle de patients soudanais avec PSH et rapporte de nouveaux gènes en cause, prérequis pour mieux comprendre dans le futur les mécanismes sous-jacents
Hereditary spastic paraplegias (HSP), a heterogeneous group of spastic neurodegenerative disorders which impose diagnostic challenges. I explored the clinical varieties and genetic pathways of spastic neurodegeneration in a familial Sudanese cohort. We recruited 41 Sudanese families [337 individuals/106 HSP patients]. I have established a genomic DNA bank and when necessary, skin biopsies and fibroblasts were also obtained. A phenotype-based candidate gene approach was followed in 4 families. A targeted next generation sequencing (NGS) for 74 HSP-related genes was the main screening strategy in all-remaining 37 families. Whole exome sequencing (WES) was done in search for novel mutations in new genes in families with negative screening results. Occasionally, functional studies were conducted when feasible and relevant. I identified the genetic cause in 17/41 families. In 12 families, the mutated genes were known HSP genes. In 3 families, novel genes were identified mutated. 5 candidate genes segregated with disease in 2 other families with more experiments needed to conclude. Analysis of the NGS screening panel and of WES data imposed certain challenges as multiple genetic disorders were sometimes found running in parallel in the same/different branches of highly inbred families. We could expand the phenotypic heterogeneity of these disorders due to clinical differences observed between Sudanese patients and patients of other origins even when caused by mutations by the same gene/variant. This is the first genetic screening in a large set of HSP families in Sudan. It describes new causative genes, paving the way for further deciphering of the underlying mechanisms

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Gauthier, Sandra. "Les maladies autosomales recessives au Saguenay-Lac-St-Jean : étude de la consanguinité et de la parenté /." Thèse, Québec : Université Laval, 1992. http://theses.uqac.ca.

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Mémoire (M.Sc.)-- Université du Québec à Chicoutimi, 1992.
Ce mémoire a été réalisé à l'UQAC dans le cadre du programme de maîtrise en médecine expérimentale (volet génétique) extensionné de l'Université Laval à l'UQAC. CaQCU Bibliogr.: f. 66-69. Document électronique également access. CaQCU

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Darr, Aliya, Neil A. Small, Waqar I.-U. Ahmad, K. Atkin, P. C. Corry, and B. Modell. "Addressing key issues in the consanguinity-related risk of autosomal recessive disorders in consanguineous communities: lessons from a qualitative study of British Pakistanis." 2015. http://hdl.handle.net/10454/10067.

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Yes
Currently there is no consensus regarding services required to help families with consanguineous marriages manage their increased genetic reproductive risk. Genetic services for communities with a preference for consanguineous marriage in the UK remain patchy, often poor. Receiving two disparate explanations of the cause of recessive disorders (cousin marriage and recessive inheritance) leads to confusion among families. Further, the realisation that couples in non-consanguineous relationships have affected children leads to mistrust of professional advice. British Pakistani families at-risk for recessive disorders lack an understanding of recessive disorders and their inheritance. Such an understanding is empowering and can be shared within the extended family to enable informed choice. In a three-site qualitative study of British Pakistanis, we explored family and health professional perspectives on recessively inherited conditions. Our findings suggest, first, that family networks hold strong potential for cascading genetic information, making the adoption of a family centred approach an efficient strategy for this community. However, this is dependent on provision of high quality and timely information from health care providers. Secondly, families’ experience was of ill-coordinated and time-starved services, with few having access to specialist provision from Regional Genetics Services; these perspectives were consistent with health professionals’ views of services. Thirdly, we confirm previous findings that genetic information is difficult to communicate and comprehend, further complicated by the need to communicate the relationship between cousin marriage and recessive disorders. A communication tool we developed and piloted is described and offered as a useful resource for communicating complex genetic information.
Department of Health

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Chin, Kun-Ming, and 金坤明. "The family experience of children with newly diagnosed autosomal recessive inherited disorder: from maternal perspective." Thesis, 2009. http://ndltd.ncl.edu.tw/handle/33t9kz.

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碩士
國立陽明大學
臨床暨社區護理研究所
97
Based on the family systematic theory, the purpose of this study is using maternal perspective to investigate the essence structure of the family experience of newly diagnosed single gene inherited disorder child. Purposive sampling was used to invited the participants. Employ phenomenology method (Colazzi, 1978) and carry on data collect from one medical center in Taipei from January 2007 to September 2007. Ten participants were selected based on the following criteria: the family having a child with newly diagnosed autosomal recessive inherited disorder in recent five years. The design of interview guide was based on the Family Systems Theory perspective. The interview each participants was audio-taped between 60-90 minutes. Contents of the interview applied the principle of 「Bracketing」 of phenomenology during the interview in depth. The data was analyzed according to the seven-step method developed by Colazzi (1978). The results of this study show that the family experience of child with newly diagnosed autosomal recessive inherited disorder which consist of five themes: 1. strange and unknown to disease, 2.family’s Shame, 3. family's life modifies tone, 4. parents build the family health care together, 5.family resource. The results will thereby be able to supply an evidence-based information for nurses in understanding the application and demands of the family with autosomal recessive inherited disorder child, and which accordingly further helps them to reach the optimal adaptability.

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Haw, Tabitha. "FANCG 637-643 deletion mutation: frequency in black patients with acute myeloid leukaemia or aplastic anaemia and the clinical phenotype of homozygotes." Thesis, 2006. http://hdl.handle.net/10539/1881.

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Student Number : 9807768F - MSc (Med) research report - Faculty of Health Sciences
Fanconi anaemia (FA) is an autosomal recessive disorder characterised by aplastic anaemia (AA) and a high risk of developing acute myeloid leukaemia (AML). It is unknown whether heterozygote carriers are also predisposed to developing these disorders. The black South African population group is ideal for FA mutation screening because the presence of a founder mutation, FANCG 637-643, makes screening relatively straight forward. Three individuals with AML (115 screened) and one with AA (78 screened) were found to be heterozygous for the black South African founder mutation. From our data it seems unlikely that this mutation places heterozygous carriers of the mutation at high risk of developing AML or AA. Three children with AA out of 26 screened, were homozygous for the mutation. This finding reiterates the importance of screening all children with AA for FA. The frequency of certain congenital abnormalities in black South African FA patients was compared to patients described by other research groups. The frequencies of the abnormalities were similar to other FANCG cohorts described but significant differences to a group of FA patients from unspecified complementation groups were found. This difference could be because different complementation groups are associated more or less strongly with specific abnormalities. It was found previously that particular congenital abnormalities in FA patients are associated with a poor haematological outcome. We concluded that black South African FANCG patients have a high risk of early development of AA even though they do not have a high frequency of congenital abnormalities.

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Books on the topic "Autosomal recessive disorders"

McKusick, Victor A. Mendelian inheritance in man: Catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes. 9th ed. Baltimore: Johns Hopkins University Press, 1990.

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Mendelian inheritance in man: Catalogs of autosomal dominant, autosomal recessive, and x-linked phenotypes. 7th ed. Baltimore: Johns Hopkins University Press, 1986.

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A, Francomano Clair, and Antonarakis Stylianos E, eds. Mendelian inheritance in man: Catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes. Baltimore: Johns Hopkins University Press, 1992.

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Mendelian inheritance in man: Catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes. 8th ed. Baltimore: Johns Hopkins University Press, 1988.

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Shakkottai, Vikram G. Ataxias. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0014.

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Autosomal recessive cerebellar ataxias are a group of inherited neurological disorders with progressive balance and gait difficulties. In these disorders, cerebellar ataxia is often accompanied by eye movement abnormalities and peripheral nervous system involvement. A unifying mechanism for disease pathogenesis that is common to all the recessive ataxias likely does not exist. Nevertheless, some pathophysiological pathways are common to several autosomal recessive cerebellar ataxias. Specific gene defects in each disorder are summarized in the chapter. The most common recessively inherited ataxias are Friedreich ataxia and Ataxia telangiectasia. A recessive ataxia must be considered for any individual with progressive cerebellar ataxia with onset less than 30 years. The treatment is primarily supportive, but some recessive ataxias have specific treatment.

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Lachmann, Robin H., and Timothy M. Cox. Disorders of Fructose Metabolism. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0003.

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Hereditary fructose intolerance is an autosomal recessive disease which is manifest at weaning but formal diagnosis is often delayed until late childhood or adult life. Fructose, sucrose and sorbitol present in offending foods and drinks induce hypoglycaemia, hypophosphatemia, acidosis, hyperuricemia and hypermagnesemia. If unrecognized, the disease causes failure to thrive, a reno-tubular syndrome with nephrocalcinosis, jaundice, and ultimately liver injury. Parenteral administration of fructose or its congeners can be fatal. Molecular analysis of the aldolase B gene has revolutionized diagnosis. Treatment by a strict dietary exclusion (supplemented by water-soluble vitamins) is successful and, if instituted in a timely manner, is compatible with a normal life span. Early diagnosis and dietary modification are critical for well-being and normal development in affected children.

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Tuschl, Karin, Peter T. Clayton, and Philippa B. Mills. Disorders of Manganese Metabolism. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0045.

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Manganese is an essential trace metal for numerous metalloenzymes. Manganese homeostasis requires tight regulation in vivo and disruption of this balance can lead to manganese overload and subsequent accumulation of manganese in brain, liver, and blood. Mutations in SLC30A10, a cell surface-localized manganese efflux transporter, cause an autosomal recessive hypermanganesemia syndrome with two distinct phenotypes: childhood onset dystonia and adult onset Parkinsonism, associated with chronic liver disease, polycythemia and features of iron depletion. MRI brain appearances are characteristic of Mn deposition with hyperintense basal ganglia on T1-weighted images. Chelation therapy with disodium calcium edetate and iron supplementation effectively lower blood manganese levels, halt liver disease progression and improve neurological symptoms.The inherited form of hypermanganesemia can be distinguished from acquired causes of manganese overload including environmental overexposure and acquired hepatocerebral degeneration in cases of end stage liver disease.

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Foggensteiner, Lukas, and Philip Beales. Bardet–Biedl syndrome and other ciliopathies. Edited by Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0314.

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Ciliopathies encompass a genotypically complex and phenotypically variable and overlapping series of disorders that makes the general term ‘ciliopathies’ very useful. The genes behind these conditions encode parts of the machinery of the primary cilium. This is also true of the major cystic kidney disorders autosomal dominant polycystic kidney disease and autosomal recessive polycystic kidney disease, but the ‘long tails’ of other ciliopathies are characterized by variable nephropathy (often without cyst formation), retinopathy, and effects on brain and skeletal development. Not all have substantial renal phenotypes. Bardet–Biedl syndrome (BBS) is an autosomal dominant condition characterized by obesity, retinopathy, nephropathy, and learning difficulty, but renal abnormalities are varied and end-stage renal failure occurs in only a minority. Many BBS genes have been described. Alström syndrome is a rare recessive disorder again associated with obesity and retinopathy, but also deafness and dilated cardiomyopathy. Renal failure is a common but later feature. Joubert syndrome is an autosomal dominant condition but can arise from mutations in at least 10 genes. It has a wide phenotypic variation with a common link being hypodysplasia of the cerebellar vermis and other abnormalities giving rise to the ‘molar tooth sign’ on cerebral magnetic resonance imaging scanning, associated with hypotonia in infancy, central ataxia, ocular apraxia, developmental delay, and varying degrees of cognitive impairment. Jeune syndrome is a recessive condition characterized by osteochondrodysplasia which can give rise to hypodevelopment of the chest wall known as suffocating thoracic dystrophy, in addition to other manifestations.

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Maegawa, Gustavo H. B. Lysosomal Storage Disorders. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0068.

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The lysosomal storage disorders (LSDs) are a group of inborn organelle disorders, clinically heterogeneous, and biochemically characterized by accumulation of nondegraded macromolecules primarily in the lysosomal and other cellular compartments. Given the common and essential cellular function of the lysosomal system in different organs and systems, patients afflicted with these disorders present a broad range of clinical problems, including neurological problems, visceromegaly, and skeletal deformities. Onset of symptoms may range from fetal period to adulthood. The neurological problems include developmental delay, seizures, acroparesthesia, motor weakness, muscle wasting, behavioral/psychiatric disturbances, cerebrovascular ischemic events, and extrapyramidal signs. Patients may present with symptoms later that include psychiatric manifestations, are slowly progressive, and may precede other neurologic or systemic features. Most of LSDs are autosomal recessive; however, a few are X-linked with symptpmatic female carriers (e.g., Fabry disease). In most of them, the diagnosis is established by biochemical and/or molecular assays. In terms of management, disease-modifying therapies include enzyme replacement, hematopoietic stem cell transplantation, and substrate reduction therapy. Patients and their families require genetic counseling regarding reproductive risks, disease prognosis, and therapeutic options. Investigations of disease molecular mechanisms provide insights into potential targets for the development of therapeutic strategies. Supportive care has been the key and essential for most LSDs, resulting in substantial improvement in quality of life of patients and families.

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Sayer, John A. Nephronophthisis and medullary cystic kidney disease. Edited by Neil Turner. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0316_update_001.

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The inherited cystic kidney conditions nephronophthisis (NPHP) and medullary cystic kidney disease (MCKD) have previously been referred to as a NPHP–MCKD complex. This descriptive term was based on histological studies where the renal pathological features were common to both disorders. Both conditions may also present with insidious renal impairment and a urine concentrating defect, but they are genetically distinct. NPHP is an autosomal recessive disorder leading to established renal failure usually within the first three decades of life, and it is a ciliopathy. In contrast, MCKD is an autosomal dominantly inherited disorder leading to renal failure in later life, typically between 30 and 60 years of age. A molecular genetic diagnosis is helpful for both disorders, allowing a more precise diagnosis, screening of at risk relatives and avoiding the need for renal biopsy. Treatment of both conditions remains supportive.

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Book chapters on the topic "Autosomal recessive disorders"

Beaudin, Marie, and Nicolas Dupré. "Autosomal Recessive Ataxias." In Essentials of Cerebellum and Cerebellar Disorders, 545–51. Cham: Springer International Publishing, 2016. http://dx.doi.org/10.1007/978-3-319-24551-5_73.

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Noreau, Anne, Nicolas Dupré, Jean-Pierre Bouchard, Patrick A. Dion, and Guy A. Rouleau. "Autosomal Recessive Cerebellar Ataxias." In Handbook of the Cerebellum and Cerebellar Disorders, 2177–91. Dordrecht: Springer Netherlands, 2013. http://dx.doi.org/10.1007/978-94-007-1333-8_100.

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Haj Salem, Ikhlass, Anne Noreau, Jean-Pierre Bouchard, Patrick A. Dion, Guy A. Rouleau, and Nicolas Dupré. "Autosomal Recessive Cerebellar Ataxias." In Handbook of the Cerebellum and Cerebellar Disorders, 1–18. Cham: Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-319-97911-3_100-2.

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Claeys, Kristl G., Martin Lammens, Jan Senderek, and Joachim Weis. "Autosomal recessive demyelinating or axonal Charcot-Marie-Tooth neuropathy." In Peripheral nerve disorders, 85–101. Chichester, UK: John Wiley & Sons, Ltd, 2014. http://dx.doi.org/10.1002/9781118618424.ch11.

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Heutink, P. "PINK-1 and DJ-1 — new genes for autosomal recessive Parkinson’s disease." In Parkinson’s Disease and Related Disorders, 215–19. Vienna: Springer Vienna, 2006. http://dx.doi.org/10.1007/978-3-211-45295-0_33.

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Milone, Margherita. "Mitochondrial DNA Multiple Deletion Syndromes, Autosomal Dominant and Recessive (POLG, POLG2, TWINKLE and ANT1)." In Mitochondrial Disorders Caused by Nuclear Genes, 123–40. New York, NY: Springer New York, 2012. http://dx.doi.org/10.1007/978-1-4614-3722-2_8.

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"Autosomal Recessive Disorder." In Encyclopedia of Autism Spectrum Disorders, 571. Cham: Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-319-91280-6_300184.

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San Luciano, M., and R. Saunders-Pullman. "DYT2, Autosomal Recessive Generalized Dystonia." In Encyclopedia of Movement Disorders, 405–8. Elsevier, 2010. http://dx.doi.org/10.1016/b978-0-12-374105-9.00114-3.

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Gispert, Suzana, Georg Auburger, Korah P. Kuruvilla, and Mark S. LeDoux. "Rodent Models of Autosomal Recessive Parkinson Disease." In Movement Disorders, 329–43. Elsevier, 2015. http://dx.doi.org/10.1016/b978-0-12-405195-9.00019-6.

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Winkelstein, Jerry A., and C. I. Edvard Smith. "B-Cell Defects: From X-linked Recessive to Autosomal Recessive Agammaglobulinemia." In Primary Immunodeficiency Disorders, 127–38. Elsevier, 2014. http://dx.doi.org/10.1016/b978-0-12-407179-7.00011-4.

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Conference papers on the topic "Autosomal recessive disorders"

Kambouris, Marios, Hibah Shaath, Abeer Fadda, Yasser Al-Sarraj, Sara Tomei, Wang Ena, and Hatem El-Shanti. "OFD1 Missense Mutation Causes an Autosomal Recessive Dyskeratosis Congenita-Like Disorder Further Complicating the Clinical Heterogeneity of OFD1 Mutations." In Qatar Foundation Annual Research Conference Proceedings. Hamad bin Khalifa University Press (HBKU Press), 2016. http://dx.doi.org/10.5339/qfarc.2016.hbpp2575.

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Sánchez-Albisua, Iciar, Nuria Brämswig, Adela Marina, Heike Kölbel, Katrin Rupprich, Alma Küchler, Tim Strom, Hermann Luedecke, Dagmar Wieczorek, and Ulrike Schara. "P 308. Autosomal Recessive Mutations in the NALCN Gene: A Rare Cause of a Severe Developmental Disorder with Facial Dysmorphia, Epilepsy and Cheyne–Stokes/Biot’s Respiration with Central Apneas." In Abstracts of the 44th Annual Meeting of the Society for Neuropediatrics. Georg Thieme Verlag KG, 2018. http://dx.doi.org/10.1055/s-0038-1675994.

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Surya, I. E., and J. W. N. Akkerman. "HUMAN PLASMA PAF-ACETYLHYDROLASE, NORMALLY PRESENT IN LOW DENSITY LIPOPROTEINS, IS ASSOCIATED WITH HIGH DENSITY LIPOPROTEINS IN A PATIENT WITH LDL DEFICIENCY." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1642882.

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Platelet Activating Factor (l-0-alkyl-2-acetyl-sn-glycerol-3-phosphocholine; PAF) plays an important role in allergic and inflammatory reactions and activates platelets in the nanomolar range. One of the main factors that controls PAF activity in blood is an enzyme that hydrolyzes the acetyl-chain thereby converting PAF to biologically inactive lyso-PAF. The enzyme is acid labile and normally associated with apo B-containing low density lipoproteins (LDL, density 1,006-1,063 g/ml).We investigated whether a deficiency in LDL would affect the enzyme activity. PAF-inactivating activity was measured in plasma from a patient with abetalipoproteinemia, a rare autosomal recessive disorder, characterized by the absence of apo B and apo B-containing lipoproteins (chylomicrons, VLDL and LDL). Plasma triglyceride was 0,2 mmol/1 (normal 1,40-2,20 mmol/1) and cholesterol 1,3 mmol/1 (normal 5,60-7,70 mmol/1). Separation of lipoproteins by density gradient centrifugation revealed a slightly decreased HDL content whereas VLDL and LDL were below the detection limit (0,20 mmol/1; based on cholesterol content).Despite the absence of LDL, PAF-inactivating activity in plasma of the patient (measured by (1) the decrease in aggregation inducing activity of PAF after incubation, (ii) the conversion of 3H-acyl-PAF to lysa PAF, separated on TLC, (iii) the liberation of 3H-label from 3H-acetyl PAF) was present and even slightly higher than in normal plasma (hydrolysis of 3 3H-PAF after 20 minutes incubation was 78 ± 4% and 65 ± 6% in patient and normals, respectively, n = 4). Subfractionation revealed that the enzyme activity was present in fractions with densities of 1,065-1,214 g/ml, which are typical for HDL.These results indicate that PAF-acetylhydrolase, although normally present in LDL, binds to HDL in a patient with extreme LDL-deficiency.Supported by the Dutch Heart Foundation (grant 85082)

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Wu, Q. Y., B. R. Bahnak, L. Coulombel, J. P. Caen, G. Pietu, and D. Meyer. "VON WILLEBRAND FACTOR mRNA IS SEVERELY REDUCED IN PIGS WITH HOMOZYGOUS VON WILLEBRAND DISEASE." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1644113.

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Porcine von Willebrand disease (vWD), an autosomal recessive disorder, is similar to some of the severe forms of vWD in humans and is characterized by a prolonged bleeding time and very low or undetectable amounts of von Willebrand factor (vWF) antigen and activity in plasma, platelets and endothelial cells. The molecular events that control the lack of expression of vWF in the vWD pigs is not known and could be at the transcriptional or post-transcriptional level. Lungs from normal and two homozygous vWD pigs were extracted immediately after harvesting of the animals and placed on dry ice. Tissues were homogenized in 6 M guanidinium thiocyanate and RNA isolated by centrifugation through cesium chloride. Total RNA was analyzed by Northern hybridization including dénaturation in glyoxal, electrophoresis in 1.0 % agarose-2.2 M formaldehyde gels and transfer onto nitrocellulose. Messenger RNA was detected with a nick-translated human vWF cDNA probe or a human actin control probe. The vWF probe, cloned from a human lung library, was 2,280 bp in length and spanned nucleotides 960 to 3,240 of the human cDNA. These human probes were considered valid to detect levels of porcine vWF and actin mRNA because they hybridized with restriction enzyme digested genomic DNA from normal and vWD pig leucocytes under conditions of high stringency. The size of the vWF mRNA in the normal pigs after Northern hybridization was approximately 9.0 kb, similar to that of human vWF mRNA, and was easily detectable at the lowest concentration of RNA blotted (5 ug). In contrast, vWF mRNA from vWD pigs was at the lower limit of detection even at 10 ug of total RNA blotted. Nevertheless, although at extremely low levels, vWF mRNA from vWD pigs appeared to be the same size as the normal mRNA. These results agree with observations on the relationship of vWF secreted from 24 hr. cultures of endothelial cells from the pulmonary artery of normal and vWD pigs where the vWF levels were 0.90 and 0.06 U/108 cells, respectively. Therefore, it appears that the very low expression of vWF in the vWD pigs is due to a lack of transcription of the vWF gene. At this time, however, turnover of unstable transcripts in the vWD pigs can not be ruled out.

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