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Published: 4 June 2021
Last updated: 8 February 2022

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1

E, Schwartz Charles, and Schroer Richard J, eds. X-linked mental retardation. New York: Oxford University Press, 2000.

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2

E, Schwartz Charles, and Rogers, R. Curtis (Richard Curtis), 1953-, eds. Atlas of X-linked intellectual disability syndromes. 2nd ed. New York: Oxford University Press, 2012.

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3

M, Optiz John, and Neri Giovanni, eds. X-linked mental retardation 3: Proceedings of the Third International Workshop on Fragile X and X-linked Mental Retardation held in Troina, Italy, September 13-16, 1987. New York: Liss, 1988.

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4

M, Opitz John, Reynolds James F, and Spano Lavelle M, eds. X-linked mental retardation 2: Proceedings of the Second International Workshop on Fragile X and X-linked Mental Retardation held on Dunk Island, Australia, August 20-23, 1985. New York: Liss, 1986.

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5

OPTIZ, JM. Opitz X-Linked Mental Retardation. John Wiley & Sons Inc, 1986.

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6

Lin, Jun. Positional Cloning of X-Linked Mental Retardation Genes. Leuven Univ Pr, 2001.

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7

Opitz, John M., Giovanni Neri, James F. Reynolds, and Lavelle Spano. X-Linked Mental Retardation 3: Proceedings of the Third International Workshop on Fragile X and X Linked Mental Retardation Held in Troina, Italy Se. Wiley-Liss, 1988.

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8

X-linked mental retardation 3: Proceedings of the Third International Workshop on Fragile X and X-linked Mental Retardation held in Troina, Italy, September 13-16, 1987. Liss, 1988.

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9

X-linked mental retardation 2: Proceedings of the Second International Workshop on Fragile X and X-linked Mental Retardation held on Dunk Island, Australia, August 20-23, 1985. Liss, 1986.

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10

Claes, Stephan. Localization of Genetic Factors for Nonspecific and Syndromic X-linked Mental Retardation. Leuven University Press, 1997.

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11

Brusse, Esther, Pascal Laforêt, and Ans T. van der Ploeg. Danon Disease. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0056.

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Danon disease, like Pompe disease, is a muscle disorder caused by a primary defect in lysosomal proteins. Danon disease (OMIM #300257) is an X-linked dominant disorder, with males being more severely affected than female carriers. In males, mean disease onset is in their early teens and in females in their late twenties. Clinical hallmarks are a severe cardiomyopathy, muscle weakness, and mild mental retardation. Retinal, liver, and pulmonary disease may also occur. Milder, sometimes isolated cardiac phenotypes without mental retardation are also described. Regular cardiac evaluation, even in asymptomatic patients, is obligatory.
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12

Cheillan, David, and Frédéric Sedel. Disorders of Creatine Metabolism. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0010.

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Creatine is a physiological guanidino compound playing a major role in energy metabolism in muscle and implicated in neurotransmission in brain. The three disorders of creatine metabolism (AGAT and GAMT deficiencies and the X-linked creatine transporter defect) are a group of inborn errors of metabolism characterized by a depletion of creatine that could be easily diagnosed by mesasurement of guanidinoacetate and creatine in body fluid or cranial MRS spectroscopy. The main clinical features of these paediatric disorders are intellectual disability and speech delay and some adult patients have been described with severe language impairment and mental retardation. Although the X-linked creatine transporter defect is currently not treatable, the clinical symptoms of the two disorders of creatine synthesis should be improved by creatine supplementation emphasizing the importance of an early diagnostic.
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13

Heidet, Laurence, Bertrand Knebelmann, and Marie Claire Gubler. Alport syndrome. Edited by Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0323.

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The diagnosis of Alport syndrome is suspected from the clinical features and confirmed by identifying the almost pathognomonic ultrastructural changes to the basement membrane in a family member with early disease (so that glomeruli are not too sclerosed), or in modern times by identifying a causative mutation in one or more of the three implicated COL4 genes. Genetic testing is becoming simpler and cheaper, but is still out of the reach of many. Eighty-five per cent of cases are caused by COL4A5 mutations and 10–15% by autosomal recessive disease. A significant proportion of morbidity in X-linked disease occurs in female ‘carriers’ heterozygous for the disease. Changes by light microscopy are non-specific, and can be misleading unless accompanied by electron microscopy. Immunohistology can be helpful but may not be definitive as some causative mutations are not associated with absence of protein product. As COL4A5 is expressed in skin, skin studies are theoretically useful, but they are technically challenging and only a definite negative result is helpful. It is important to distinguish other disorders causing renal disease with deafness, and other causes of glomerular haematuria. Two rare syndromes are caused by extended deletions beyond the COL4A5 gene: X-linked Alport syndrome with diffuse oesophageal leiomyomatosis in which smooth muscle leoimyomas is transmitted in a dominant fashion, and X-linked Alport syndrome with mental retardation.
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14

Bagni, Claudia, and Eric Klann. Molecular Functions of the Mammalian Fragile X Mental Retardation Protein: Insights Into Mental Retardation and Synaptic Plasticity. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199744312.003.0008.

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Chapter 8 discusses how Fragile X syndrome (FXS) is caused by the absence of the RNA-binding protein fragile X mental retardation protein (FMRP). FMRP is highly expressed in the brain and gonads, the two organs mainly affected in patients with the syndrome. Functionally, FMRP belongs to the family of RNA-binding proteins, shuttling from the nucleus to the cytoplasm, and, as shown for other RNA-binding proteins, forms large messenger ribonucleoparticles.
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15

Language and Communication in Mental Retardation. Elsevier, 2003. http://dx.doi.org/10.1016/s0074-7750(00)x0002-x.

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16

Educational Resources Information Center (U.S.), ed. Elementary school and boys with Fragile X Syndrome. [Chapel Hill, N.C.]: Frank Porter Graham Child Development Center, University of North Carolina at Chapel Hill, 2001.

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17

E, Davies K., ed. The Fragile X syndrome. Oxford: Oxford University Press, 1989.

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18

Brennfleck, Shannon Joyce, ed. Mental retardation sourcebook: Basic consumer health information about mental retardation and its causes, including down syndrome, fetal alcohol syndrome, Fragile X syndrome, genetic conditions, injury ... Detroit, Mich: Omnigraphics, 2000.

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19

Powell, Craig M., and Antony A. Boucard. Neuroligins and Neurexins: Bridging the Synaptic Cleft in Autism. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199744312.003.0014.

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Animal models of autism are now prolific as human genetic findings in autism provide a compelling rationale for developing bona fide mouse models of subtypes of human autism/mental retardation. Furthermore, these findings provide the opportunity to understand at a molecular, cellular, and circuit level the pathogenesis of a subset of ASDs. This chapter introduces neuroligins and neurexins, their function, their genetic link to autism, genetic mouse models of autism based on neuroligin and neurexin mutation/deletion, and the potential for understanding the pathogenesis and ultimately treatment of ASDs linked to these genes. This chapter is updated and adapted from an earlier published version (Powell & Boucard, 2010).
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