Mutations in the BRWD3 Gene Cause X-Linked Mental Retardation Associated with Macrocephaly
نویسندگان
چکیده
منابع مشابه
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.
Human Mental Retardation (MR) is a common and highly heterogeneous pediatric disorder affecting around 3% of the general population; at least 215 X-linked MR (XLMR) conditions have been described, and mutations have been identified in 83 different genes, encoding proteins with a variety of function, such as chromatin remodeling, synaptic function, and intracellular trafficking. The small GTPase...
متن کاملX-linked mental retardation.
A survey of the mentally retarded children with an IQ between 30 and 55 born in a 10-year period (1955-64) and now of school age was carried out in New South Wales. The number of propositi who had a similarly affected sib of the same sex was ascertained; 58 boys had a similarly affected brother(s) and 22 girls had a similarly affected sister(s). It is suggested that the excess of affected broth...
متن کاملMutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate.
Truncating mutations were found in the PHF8 gene (encoding the PHD finger protein 8) in two unrelated families with X linked mental retardation (XLMR) associated with cleft lip/palate (MIM 300263). Expression studies showed that this gene is ubiquitously transcribed, with strong expression of the mouse orthologue Phf8 in embryonic and adult brain structures. The coded PHF8 protein harbours two ...
متن کاملMutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation.
Nonsyndromic X-linked mental retardation (MRX) is defined by an X-linked inheritance pattern of low IQ, problems with adaptive behavior, and the absence of additional specific clinical features. The 13 MRX genes identified to date account for less than one-fifth of all MRX, suggesting that numerous gene defects cause the disorder in other families. In a female patient with severe nonsyndromic m...
متن کاملX-linked mental retardation associated with macro-orchidism.
Two families are described with an X-linked form of mental retardation in whom the affected males were found to have bilateral enlargement of the testes. No conclusive evidence of any endocrinological disturbance was found.
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2007
ISSN: 0002-9297
DOI: 10.1086/520677