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Статті в журналах з теми "Usher syndrome type 1J"
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Riazuddin, Saima, Inna A. Belyantseva, Arnaud P. J. Giese, Kwanghyuk Lee, Artur A. Indzhykulian, Sri Pratima Nandamuri, Rizwan Yousaf, et al. "Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48." Nature Genetics 44, no. 11 (September 30, 2012): 1265–71. http://dx.doi.org/10.1038/ng.2426.
Повний текст джерела
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Jan, A. "Mutations in CIB2 calcium and integrin-binding protein disrupt auditory hair cell calcium homeostasis in Usher syndrome type 1J and non-syndromic deafnessDFNB48." Clinical Genetics 83, no. 4 (April 2013): 317–18. http://dx.doi.org/10.1111/cge.12100.
Повний текст джерела
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Castiglione, Alessandro, and Claes Möller. "Usher Syndrome." Audiology Research 12, no. 1 (January 11, 2022): 42–65. http://dx.doi.org/10.3390/audiolres12010005.
Повний текст джерелаАнотація:
Usher syndrome (USH) is the most common genetic condition responsible for combined loss of hearing and vision. Balance disorders and bilateral vestibular areflexia are also observed in some cases. The syndrome was first described by Albrecht von Graefe in 1858, but later named by Charles Usher, who presented a large number of cases with hearing loss and retinopathy in 1914. USH has been grouped into three main clinical types: 1, 2, and 3, which are caused by mutations in different genes and are further divided into different subtypes. To date, nine causative genes have been identified and confirmed as responsible for the syndrome when mutated: MYO7A, USH1C, CDH23, PCDH15, and USH1G (SANS) for Usher type 1; USH2A, ADGRV1, and WHRN for Usher type 2; CLRN1 for Usher type 3. USH is inherited in an autosomal recessive pattern. Digenic, bi-allelic, and polygenic forms have also been reported, in addition to dominant or nonsyndromic forms of genetic mutations. This narrative review reports the causative forms, diagnosis, prognosis, epidemiology, rehabilitation, research, and new treatments of USH.
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Pennings, Ronald J. E., August F. Deutman, Randall R. Fields, William J. Kimberling, Patrick L. M. Huygen, and W. R. J. Cremers. "Usher Syndrome Type III Can Mimic other Types of Usher Syndrome." Annals of Otology, Rhinology & Laryngology 112, no. 6 (June 2003): 525–30. http://dx.doi.org/10.1177/000348940311200608.
Повний текст джерелаАнотація:
Clinical and genetic characteristics are presented of 2 patients from a Dutch Usher syndrome type III family who have a new homozygous USH3 gene mutation: 149–152delCAGG + insTGTCCAAT. One individual (IV: 1) is profoundly hearing impaired and has normal vestibular function and retinitis punctata albescens (RPA). The other individual is also profoundly hearing impaired, but has well-developed speech, vestibular areflexia, and retinitis pigmentosa sine pigmento (RPSP). These findings suggest that Usher syndrome type III can be clinically misdiagnosed as either Usher type I or II; that Usher syndrome patients who are profoundly hearing impaired and have normal vestibular function should be tested for USH3 mutations; and that RPA and RPSP can occur as fundoscopic manifestations of pigmentary retinopathy in Usher syndrome.
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Reisser, Christoph F. V., William J. Kimberling, and Christian R. Otterstedde. "Hearing Loss in Usher Syndrome Type II is Nonprogressive." Annals of Otology, Rhinology & Laryngology 111, no. 12 (December 2002): 1108–11. http://dx.doi.org/10.1177/000348940211101208.
Повний текст джерелаАнотація:
Usher syndrome is an autosomal recessive disorder characterized by sensorineural hearing loss and progressive visual loss secondary to retinitis pigmentosa. In the literature, a possible progression of the moderate to severe hearing loss in Usher syndrome type II (Usher II) is controversial. We studied the development of the hearing loss of 125 patients with a clinical diagnosis of Usher syndrome type II intraindividually and interindividually by repeatedly performing complete audiological and neuro-otologic examinations. Our data show a very characteristic slope of the hearing curve in all Usher II patients and no clinically relevant progression of the hearing loss over up to 17 years. The subjective impression of a deterioration of the communicative abilities of Usher II patients must therefore be attributed to the progressive visual loss. The patients should be reassured that changes in their hearing abilities are unlikely and should be provided with optimally fitted modern hearing aids.
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Keats, Bronya J. B., Alexander A. Todorov, Larry D. Atwood, Mary Z. Pelias, J. Fielding Hejtmancik, William J. Kimberling, Mark Leppert, Richard A. Lewis, and Richard J. H. Smith. "Linkage studies of usher syndrome type 1: Exclusion results from the usher syndrome consortium." Genomics 14, no. 3 (November 1992): 707–14. http://dx.doi.org/10.1016/s0888-7543(05)80172-7.
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Ouyang, Xiao Mei, Denise Yan, Li Lin Du, J. Fielding Hejtmancik, Samuel G. Jacobson, Walter E. Nance, An Ren Li, et al. "Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population." Human Genetics 116, no. 4 (January 20, 2005): 292–99. http://dx.doi.org/10.1007/s00439-004-1227-2.
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Aarem, Annelies Van, Mariette Wagenaar, Alfred J. L. G. Pinckers, Patrick L. M. Huygen, Elisabeth M. Bleeker-wagemakers, Bill J. Kimberling, and W. R. J. Cremers. "Ophthalmologic findings in Usher syndrome type 2A." Ophthalmic Genetics 16, no. 4 (January 1995): 151–58. http://dx.doi.org/10.3109/13816819509057856.
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Ouyang, XM, D. Yam, JF Hejtmancik, SG Jacobson, AR Li, LL Du, S. Angeli, M. Kaiser, T. Balkany, and XZ Liu. "Mutational spectrum in Usher syndrome type II." Clinical Genetics 65, no. 4 (February 16, 2004): 288–93. http://dx.doi.org/10.1046/j.1399-0004.2004.00216.x.
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Pieke Dahl, S., W. J. Kimberling, M. B. Gorin, M. D. Weston, J. M. Furman, A. Pikus, and C. Moller. "Genetic heterogeneity of Usher syndrome type II." Journal of Medical Genetics 30, no. 10 (October 1, 1993): 843–48. http://dx.doi.org/10.1136/jmg.30.10.843.
Повний текст джерелаДисертації з теми "Usher syndrome type 1J"
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Blaydon, Diana Claire. "Molecular genetics of Usher syndrome type 1C." Thesis, University College London (University of London), 2004. http://discovery.ucl.ac.uk/1446499/.
Повний текст джерелаАнотація:
Usher syndrome type 1C is an autosomal recessive condition in which profound, congenital sensorineural deafness is found in association with vestibular hypofunction and childhood onset retinitis pigmentosa. The gene responsible for Usher type 1C, USH1C, codes for a PDZ domain-containing protein, harmonin, of unknown function. In addition, the locus for a form of non- syndromic autosomal recessive deafness, DFNB18, overlaps with the USH1C gene. In this thesis the USH1C gene is studied in more detail, both at the molecular level and at the protein level. Two cohorts of patients, individuals diagnosed with Usher type 1, and a group of sibs with recessive non-syndromic deafness concordant for markers flanking the DFNB18 locus, were screened for mutations in USH1C. One Usher type 1 patient was homozygous for a recurrent mutation, and the possibility of a founder effect was investigated by analysing intragenic SNPs. Another Usher type 1 patient had two novel coding mutations that were studied in more detail to establish whether they were likely to be disease-causing or represent rare polymorphisms. USH1C is an alternatively spliced gene with evidence for tissue-specific isoforms of the protein. The repertoire of alternative isoforms and their tissue distributions were studied in human foetal tissues using non-quantitative RT- PCR. Particular attention was paid to a putative isoform thought to utilize an alternative start site in the centre of the gene. This isoform may have importance in other tissues when a mutation at the 5' end of USH1C results in a non-functional protein from the usual start site. The sub-cellular localization of harmonin was investigated in individual human epithelial cells using fluorescent immunocytochemistry, and fluorescent immunohistochemistry was used to study the localization in mouse inner ear sections. Finally, to understand more about the possible role of harmonin in the ear and the eye, an in vitro GST pull-down assay was set up to investigate the interaction of harmonin with another Usher type 1 protein, protocadherin 15.
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Joensuu, Tarja. "Positional cloning of the usher syndrome type 3 gene (USH3)." Helsinki : University of Helsinki, 2002. http://ethesis.helsinki.fi/julkaisut/laa/kliin/vk/joensuu/.
Повний текст джерела
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Henricson, Cecilia. "Cognitive capacities and composite cognitive skills in individuals with Usher syndrome type 1 and 2." Doctoral thesis, Linköpings universitet, Institutionen för beteendevetenskap och lärande, 2015. http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-120114.
Повний текст джерелаАнотація:
The present thesis belongs to the research area disability research and deal with specific aspects of cognition in individuals with Usher syndrome type 1 and 2. The subject has been investigated and is discussed within an interdisciplinary framework, though the theories applied and described are derived from the area of cognitive psychology. Usher syndrome is a rare genetic condition causing a combination of visual and hearing impairment: deafblindness. There is a congenital hearing loss that is profound in type 1 and moderate to severe in type 2. During mid-childhood symptoms of visual impairment, e.g. light sensitivity, emerge and a progressive loss of visual field follows as a result of the genetically caused eye disease Retinitis Pigmentosa. The syndrome has previously been well described with respect to the genetical and medical aspects, but there has been very little research with a cognitive perspective on the population. Studies 1 and 2 in the present thesis focused on children with Usher syndrome type 1 with cochlear implants and investigated phonological skills, lexical access, working memory and reading skill in the group. Studies 3 & 4 investigated the same cognitive abilities and theory of mind in adults with Usher syndrome type 2. In study 4 the performance on theory of mind in the adults with Usher syndrome type 2 was also compared to that of another group with genetically caused deafblindness: individuals with Alström syndrome. The results were that both the children and adults with Usher syndrome had significantly poorer phonological processing than the control groups with normal hearing. There was a large variation on performance on lexical access, especially in the group of children, however several individuals performed at the same level as the control group. Reading skill was found to be at level with the control groups’. There was also great variation in performance on ToM, however the majority of individuals performed similar to the control group with normal hearing and vision. The present project has resulted in some new knowledge on cognitive performance in individuals with Usher syndrome type 1 and type 2. Performance in the participants with Usher syndrome can to a large extent can be understood by application of the models developed in previous research on populations with hearing impairment or deafness for understanding the impact of hearing with a hearing aid or cochlear implant. However, individuals with Usher syndrome experience additional difficulties in accessing information due to the progressive visual loss and the impact this has on performance is still largely unknown. Hence, the present project would recommend that interventions and support would be designed specifically to each individuals’ needs, with consideration of both the visual impairment and the hearing impairment.Föreliggande avhandling tillhör ämnet handikappvetenskap och beskriver specifika kognitiva förmågor hos personer med Ushers syndrom typ 1 och 2. Avhandlingens ämne har undersökts utifrån ett tvärvetenskapligt perspektiv, även om de teorier som tillämpas och beskrivs huvudsakligen härrör inom området kognitiv psykologi. Ushers syndrom är en ovanlig genetisk åkomma som leder till kombinationen av syn- och hörselnedsättning: dövblindhet. Individer med typ 1 av syndromet har medfödd dövhet medan individer med typ 2 har en medfödd måttlig till grav hörselnedsättning. Någon gång i åldrarna 6-10 år börjar de första symptomen, till exempel nedsatt mörkerseende, på den genetiskt betingade progressiva synnedsättningen Retinitis Pigmentosa att framträda. Syndromet är väl beskrivet i forskningen med avseende på genetiska och medicinska aspekter, men det finns extremt lite tidigare forskning med kognitivt perspektiv om populationen. Studierna 1 och 2 i föreliggande avhandling fokuserade på barn med Ushers syndrom typ 1 och cochleaimplantat. Dessa studier undersökte fonologisk förmåga, lexikal access, arbetsminne och läsning i gruppen. Studie 3 undersökte samma kognitiva förmågor hos vuxna med typ 2 av syndromet. I studie 4 undersöktes även den sammansatta förmågan Theory of Mind hos de vuxna med typ 2 och deras prestation jämfördes både mot en kontroll grupp med normal hörsel och syn och en kontrollgrupp med annan typ av dövblindhet; Alström syndrom. Resultaten visade att både barnen och de vuxna med Ushers syndrom hade signifikant sämre fonologisk förmåga än kontrollgruppen med normal hörsel. Nivån på prestation varierade stort inom grupperna, särskilt mellan barnen med typ 1, och flera av individerna (barn och vuxna) presterade trots hörselnedsättningen på samma nivå som de normalhörande. Läsfärdigheten befanns vara i nivå med kontrollgrupperna. I den vuxna gruppen var det stor variation i prestation även på Theory of Mind, men de flesta av individerna presterade liknande som kontrollgruppen med normal hörsel och syn. Föreliggande projekt har resulterat i lite mer kunskap om kognitiva färdigheter hos individer med Ushers syndrom typ 1 och 2. De resultat som individerna med Ushers syndrome presterade kan till stor del förstås och tolkas genom tillämpning av teorier och modeller utvecklade för att den inverkan på kognitiva förmågor det har att ha nedsatt hörsel och höra med hjälp av hörselapparat eller cochleaimplantat. Dock tyder fynden i detta projekt även på att individer med Ushers syndrom på grund av den allvarliga synnedsättningen har ytterligare svårigheter att få tillgodogöra sig information, men i vilken utsträckning och på vilket sätt är ännu inte beskrivet. Utifrån fynden i föreliggande studie blev rekommendation att interventioner och stöd till personer med Ushers syndrom utformas specifikt till varje individ, med hänsyn taget både till hens grad av synnedsättning och hörselnedsättning.
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Lahlou, Ghizlène. "Thérapie génique translationnelle des surdités et troubles vestibulaires d'origine génétique." Electronic Thesis or Diss., Sorbonne université, 2020. https://accesdistant.sorbonne-universite.fr/login?url=https://theses-intra.sorbonne-universite.fr/2020SORUS090.pdf.
Повний текст джерелаАнотація:
La surdité et les troubles vestibulaires sont des pathologies fréquentes, source de handicap et d’altération de la qualité de vie. Actuellement, il n’existe pas de traitement curatif pour ces pathologies. La thérapie génique utilisant les AAVr semble une alternative prometteuse notamment dans le traitement des surdités et troubles vestibulaires d’origine génétique. Cependant, de nombreux défis restent à relever avant d’envisager une application chez l’Homme. Dans ce travail, nous avons cherché à identifier les étapes clés à franchir pour une application clinique de la thérapie génique pour 2 surdités génétiques humaines, le syndrome USH1G et la surdité DFNB9, à l'aide des modèles murins correspondants, d'études chez le primate non-humain et d'un modèle d’explant d’organes vestibulaires humains. Nous avons pu montrer que la fenêtre thérapeutique était un facteur majeur à prendre en compte dans un objectif translationnel. Le stade de maturation de l’oreille interne influe grandement sur l’efficacité de la thérapie, d’autant plus lorsque la pathologie implique des anomalies de développement comme dans le syndrome USH1. Pourtant, nous avons pu apporter la preuve d’une extension de la fenêtre thérapeutique chez la souris Ush1g-/-, et montrer que la thérapie génique permettait une restauration à un niveau proche de la normale de la fonction vestibulaire et dans une moindre mesure de la fonction auditive après injection à un stade mature. Dans la surdité DFNB9 pour laquelle il n’existe pas d’anomalie de développement, nous avons pu montrer que la thérapie génique permettait une restauration complète de l’audition, et posé les fondements d’une future thérapie chez l’HommeDeafness and vestibular disorders are frequent pathologies, and sources of disability and impaired quality of life. Deafness is the most common sensory disorder in humans, and 1 child is born deaf for every 700 births. Currently, there is no cure for these disorders. A promising therapeutic alternative is gene therapy using rAAV, and numerous preclinical studies have provided proof of its efficacy in the treatment of deafness and vestibular disorders of genetic origin. However, many challenges remain to be overcome before considering application in humans. In this work, we sought to identify the key steps to be taken for a clinical application of gene therapy for 2 human genetic causes of deafness, USH1G syndrome and DFNB9 deafness. We used the corresponding mouse models for this, as well as studies in non-human primates and an in vitro human vestibular organ explant model. We were able to show that the therapeutic window was a major factor to take into account in a translational objective. The stage of maturation of the inner ear greatly influences the effectiveness of therapy, especially when the pathology involves developmental abnormalities such as in USH1 syndrome. However, we were able to provide evidence of an extension of the therapeutic window in Ush1g-/- mice, and to show that viral gene therapy performed at a mature stage allowed vestibular function to be restored to a level close to normal, and to a lesser extent a restauration of hearing function. In DFNB9 deafness for which there is no developmental abnormality, we were able to show that gene therapy allowed a complete restoration of hearing, and laid the foundations for a future therapy in humans
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Labbe, Ménélik. "Caractérisation fonctionnelle du complexe de transduction mécano-électrique des cellules ciliées du système auditif." Thesis, Paris 6, 2016. http://www.theses.fr/2016PA066543/document.
Повний текст джерелаАнотація:
Le syndrome d’Usher (USH) associe une surdité neurosensorielle congénitale et une perte progressive de la vision par rétinite pigmentaire. Pendant ma thèse, l’essentiel de mon travail a porté sur un gène responsable du syndrome d’Usher de type 2, USH2A. Ce gène code pour l’usherine, une protéine associée aux liens fibreux interstéréociliaires situés à la base de la touffe ciliaire des cellules ciliées de la cochlée. Ces liens transitoires disparaissent autour du 9e jour post-natal (P9), chez la souris et le complexe moléculaire associé à ces liens inclut l’usherine, adgrv1 (un récepteur membranaire couplé aux protéines G), la whirline, et pdzd7 (deux protéines sous-membranaires d’échafaudage contenant des domaines PDZ). Des travaux précédents ont montré que l’interaction de ces quatre protéines était nécessaire à un développement correct de la touffe ciliaire, qui lui-même conditionne la transduction mécano-électrique opérée par les cellules ciliées. Pendant ma thèse, j’ai étudié les effets, à court terme et à long terme, de l’absence de la plus longue des 2 isoformes connues de l’usherine, l’isoforme-b transmembranaire, sur des souris mutantes pour le gène Ush2a (Ush2aΔTM/ΔTM). Chez ces souris, j’ai effectué des mesures de courants de transduction mécano-électrique, des enregistrements des potentiels évoqués auditifs (PEA), des tests de masquage auditif, et une analyse morphologique des cellules ciliées par imagerie au microscope électronique à balayage. Ainsi, j’ai pu montrer que les liens interstéréociliaires basaux étaient présents à P4 et que les courants de transduction mécano-électrique étaient normaux à P7. L’absence de l’isoforme-b de l’usherine n’a, en fait, que très peu de conséquences morphologiques et fonctionnelles sur la touffe ciliaire des cellules ciliées de la cochlée durant les 3 ou 4 premiers mois de vie chez la souris. A partir de l’âge de 4 mois cependant, les souris Ush2aΔTM/ΔTM souffrent d’une perte progressive de l’audition et d’anomalies de la sélectivité dans l’analyse des fréquences du son, dues surtout à un dysfonctionnement des cellules ciliées externes. Ces résultats viennent alimenter le débat sur le caractère progressif de la surdité du syndrome d’Usher de type 2A. La surdité des patients USH2A est considérée comme étant le plus souvent non progressive, mais plusieurs études ont révélé que certains patients souffrent en fait d’une surdité progressive. Mon travail a permis de montrer que chez la souris, la surdité en rapport avec des mutations d’Ush2a peut également être progressive. L’existence potentielle d’une fenêtre temporelle chez les patients USH2A dont la surdité moins sévère à la naissance, va ensuite s’aggraver, pourrait permettre d’envisager dans le futur un traitement curatif précoce du déficit auditif de ces patients, par thérapie géniqueUsher syndrome (USH) is characterised by a sensorineural congenital deafness and a progressive loss of vision by retinitis pigmentosa. During my PhD, my main focus of study was a gene responsible for Usher syndrome type 2, USH2A. This gene codes for usherin, a protein associated with the fibrous links located at the base of the hair bundle of cochlear, and vestibular hair cells. In mice, these transitory links start to disappear as of postnatal day 9 (P9), and the molecular complex with which they are associated is composed of usherin, adgrv1 (an adhesion G protein coupled receptor), whirlin, and pdzd7 (two submembranous PDZ domain-containing scaffold proteins). Previous work has shown that the interaction in between these 4 proteins is essential for the development of the hair bundle, the structure responsible for the initiation of the mechano-electrical transduction (MET) process in the hair cells. During my thesis, I studied the short term and long term effects of the absence of the longest of the 2 usherin isoforms, the transmembrane b-isoform, in mice carrying a mutation in the Ush2a gene (Ush2aΔTM/ΔTM). In these mice, I measured mechano-electrical currents, auditory brainstem responses, undertook auditory masking tests, and analysed scanning electron micrographs of cochlear hair bundles. Through this work, I showed that basal lateral links similar to ankle links could be observed on P4, and that MET currents were normal on P7. The absence of the long b-isoform of usherin actually has very little effect on the morphology or the function of the cochlear hair bundle in mice, until 3 or 4 months of age. As of 4 months old however, Ush2aΔTM/ΔTM mice suffer from a progressive hearing loss, and frequency selectivity defects, mainly cause by a dysfunction of outer hair cells. These results will further add to the debate on whether the hearing loss in Usher syndrome type 2A is progressive or not. Hearing loss in USH2A patients is generally considered non progressive, but several studies have given indication to the contrary. My work has shown that in mice, deafness caused by mutations to the Ush2a gene can also follow a progressive pattern. The potential existence of this temporal window in USH2A patients whose hearing impairment is less severe at birth, but gets worse over time, could allow clinicians to use gene therapy as curative treatment for patients who fall into this category
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DELL'AQUILA, FABIO. "GENE THERAPY FOR GYRATE ATROPHY OF CHOROID AND RETINA AND FOR USH1B RETINITIS PIGMENTOSA." Doctoral thesis, Università degli Studi di Milano, 2021. http://hdl.handle.net/2434/884458.
Повний текст джерелаАнотація:
Inherited Retinal Diseases (IRDs) represent a major cause of blindness worldwide. Adeno-associated viral (AAV) vector-based gene therapies represent the most promising treatments. We aimed to develop gene therapies for gyrate atrophy of the choroid and retina (GA) and Usher syndrome type 1B (USH1B) retinitis pigmentosa.
GA is characterized by ornithine aminotransferase [OAT, coding sequence (CDS) ∽1.3 Kb] deficiency. We demonstrated in vitro expression and activity of 3XFlag-tagged human OAT (hOAT-3XFlag). AAV vector carrying the hOAT-3XFlag expression cassette improved the structural retinal defects in the Oat-/- mouse model of GA.
Bi-allelic mutations in the Myosin7A gene (MYO7A) (CDS ∽6.7 Kb) cause USH1B, the most common combination of inherited congenital deafness and blindness. We demonstrated effective delivery and expression of MYO7A in mice and pigs using dual AAV vectors. During AAV manufacturing, we found a contaminant vector resulting from recombination between two homologous sequences in the AAV vector containing the 5’ half of hMYO7A. This was removed by changing one of the two sequences while maintaining the same MYO7A expression levels in vivo. We selected three therapeutic doses of dual AAV-hMYO7A that rescue retinal defects in shaker-1 mice, a mouse model of USH1B. These doses will be translated in patients with USH1B. In the same mouse model, we confirmed biological potency of dual AAV-hMYO7A that will be used in the clinical trial.
Overall, these studies offer promising results, paving the way for a gene therapy of GA and for the clinical translation of dual AAV vectors in USH1B subjects.
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Lin, Mei-Chu, and 林美珠. "The Genetic Characteristics of an Usher Syndrome Type II Family." Thesis, 2010. http://ndltd.ncl.edu.tw/handle/42575941844580818735.
Повний текст джерелаАнотація:
碩士國立台北護理學院
聽語障礙科學研究所
98
Usher syndrome type II (USH2), an autosomal recessive disorder, is the most common type of User syndrome and characterized by congenital moderate to severe sensorineural hearing loss and progressive retinitis pigmentosa. Up to date, there are 4 loci associated with USH2. Defects in the USH2A gene have been responsible for most cases of USH2, but the locations and frequency of mutation sites are different between ethnicities. In this report, we screened the entire coding region of USH2A isoform B for a Taiwan family with 2 USH2 patients and 9 relatives by direct sequencing, and uncovered 17 different sequence variations, including 15 polymorphism sites and 2 novel mutations. Thirteen of 15 polymorphism sites have been reported in previous publications related to Eastern Asian populations and 2, c.997T>C and c.7448T>G, are novel. The 2 novel mutations, c.2187C>A (p.C729X) and c.13852delG (p.A4618fs), are compound heterozygotes in this family. Our results indicate that the mutation spectrum of USH2A gene among Taiwan population may differ from non-Eastern Asian populations. The finding of the report provides information not only for clinical diagnoses and follow up patients of this family in the future but also for the development of novel clinical diagnoses tools and therapies.
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Jorge, André Filipe Santos. "Molecular studies of a novel mutation in MYO7A gene in Usher Syndrome type I." Master's thesis, 2016. http://hdl.handle.net/10316/33413.
Повний текст джерелаАнотація:
Trabalho de revisão do 6º ano médico com vista à atribuição do grau de mestre (área científica de genética) no âmbito do ciclo de estudos de Mestrado Integrado em Medicina.Introdução: O Síndrome de Usher (USH) é uma doença autossómica recessiva caracterizada por um quadro de défice auditivo neurosensorial e retinite pigmentar, associado ou não a disfunção vestibular. USH é dividido em três tipos, sendo o USH tipo I o mais grave, caraterizado por surdez grave a profunda bilateral congénita, disfunção vestibular e retinite pigmentar diagnosticada durante a infância. Nas famílias com USH tipo I, MYO7A é o gene mais frequentemente mutado (50%). Este gene codifica para a proteína Miosina VIIa, previamente descrita como uma proteína motor de transporte e participando na formação da adesão célula a célula. Num estudo anterior foi encontrada uma nova alteração (c.4489G>C) no gene MYO7A num doente português com USH tipo I. Este trabalho propôs-se a avaliar a possibilidade de esta alteração ser responsável pelo fenótipo. Métodos: Uma avaliação clínica completa foi feita de forma a confirmar o fenótipo do doente. As análises por Sequenciação do exão 34 do gene MYO7A da amostra do doente e por PCR-RFLP das amostras do doente e de 250 indivíduos normais sem USH foram efetuadas para avaliar a presença da alteração c.4489G>C. Adicionalmente, foram realizados estudos in silico, usando software disponíveis online e a conservação evolutiva num grupo de primatas e não primatas. Finalmente, para determinar a expressão da alteração c.4489G>C nos transcritos do gene MYO7A, foram estudadas amostras de epitélio nasal do doente e de dois indivíduos normais. Resultados/Discussão: Foi confirmada a presença da variante c.4489G>C no doente com USH do tipo I e a sua ausência em 250 indivíduos normais. Os softwares online usados demostraram que a variante era lesiva, provavelmente deletéria ou causadora da doença. O estudo da conservação evolutiva demonstrou uma região altamente conservada no genoma e na proteína, em todas as espécies estudadas. Foi ainda possível identificar a expressão da variante c.4489G>C nos transcritos da amostra do doente e a sua ausência nas amostras dos indivíduos normais. Conclusão: Assim, foi possível concluir que a nova alteração c.4489G>C do gene MYO7A é uma mutação missense homozigótica, provavelmente responsável pelo USH do tipo I no doente português e que a sua expressão foi encontrada nos transcritos do epitélio nasal do doente. Usher syndrome (USH) is an autosomal recessive disorder characterized by the association of a sensorineural hearing impairment and retinitis pigmentosa, with or without vestibular dysfunction. USH is divided in three types, being USH type I the most severe form, characterized by severe to profound congenital and bilateral sensorineural hearing loss, congenital vestibular dysfunction and retinitis pigmentosa diagnostic during childhood. In USH type I families, MYO7A is the most commonly mutated gene (50%). This gene codes for Myosin VIIa protein, previously described as a motor transport protein and participating in the establishment of cell-cell adhesions. In a previous study, it was found a novel homozygous variant (c.4489G>C) in MYO7A gene in an USH type I Portuguese patient. This work purposed to appraise the possibility of this variant be responsible for the phenotype. A complete evaluation was performed to ascertain the clinical phenotype of the patient. Patient’s sample Sequencing analysis of MYO7A gene exon 34 and PCR-RFLP analysis of patient and 250 DNA samples from normal individuals without USH was accomplished to assess the c.4489G>C variant presence. Additionally, in silico studies using available internet software and evolutionary conservation in a group of primates and non-primates was performed. Finally, in order to determine if the c.4489G>C variant allele was expressed in MYO7A gene transcripts, nasal epithelium samples from the patient and two normal individuals were studied. The presence of c.4489G>C variant in an USH type I patient and its absence in 250 normal individuals was confirmed. Internet software used determined that this variant was probably damaging, deleterious or disease causing. Evolutionary conservation study showed a highly conserved region both in nucleotide and amino acid sequences from Homo sapiens to Molecular studies of a novel mutation in MYO7A gene in Usher Syndrome type I 13 Caenorhabditis elegans. Expression of c.4489G>C variant in patient’s cDNA sample was identified as well as its absence in the two normal individuals cDNA samples. In conclusion, this study revealed that the novel c.4489G>C MYO7A gene variant is a homozygous missense mutation, probably responsible for USH type 1 in a Portuguese patient and its expression found in patient’s nasal epithelium transcripts.
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Lin, Wen-Ying, and 林雯英. "Identification & functional analysis of a novel mutant allele, MYO7A c.6335C>G(p.S2112*) of Usher syndrome type II." Thesis, 2019. http://ndltd.ncl.edu.tw/handle/8a754u.
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The madness of Usher's: Coping with vision and hearing loss (Usher syndrome type II). Corpus Christi, Tex: Business of Living Publications, 1991.
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Ayyagari, Radha, Anren Li, Ann Nestorowicz, Yan Li, Richard J. H. Smith, M. Alan Permutt, and J. Fielding Hejtmancik. "Usher Syndrome Type 1C." In Degenerative Retinal Diseases, 303–12. Boston, MA: Springer US, 1997. http://dx.doi.org/10.1007/978-1-4615-5933-7_33.
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Ayyagari, Radha, Richard J. H. Smith, Elizabeth C. Lee, William J. Kimberling, Marcelle Jay, Alan Bird, and J. Fielding Hejtmancik. "Heterogeneity of Usher Syndrome Type I." In Retinal Degeneration, 127–33. Boston, MA: Springer US, 1993. http://dx.doi.org/10.1007/978-1-4615-2974-3_12.
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Williams, David S., and Vanda S. Lopes. "Gene Therapy Strategies for Usher Syndrome Type 1B." In Retinal Degenerative Diseases, 235–42. Boston, MA: Springer US, 2011. http://dx.doi.org/10.1007/978-1-4614-0631-0_31.
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Bork, J. M., R. J. Morell, S. Khan, S. Riazuddin, E. R. Wilcox, T. B. Friedman, and A. J. Griffith. "Clinical Presentation of DFNB12 and Usher Syndrome Type 1D." In Advances in Oto-Rhino-Laryngology, 145–52. Basel: KARGER, 2002. http://dx.doi.org/10.1159/000066829.
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Nagel-Wolfrum, Kerstin, Timor Baasov, and Uwe Wolfrum. "Therapy Strategies for Usher Syndrome Type 1C in the Retina." In Retinal Degenerative Diseases, 741–47. New York, NY: Springer New York, 2014. http://dx.doi.org/10.1007/978-1-4614-3209-8_93.
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