Correction: Mutations in GDI1 are responsible for X-linked non-specific mental retardation
نویسندگان
چکیده
منابع مشابه
[Non-specific X-linked mental retardation].
INTRODUCTION Non-specific mental retardation is defined by the absence of somatic, neurological, biochemical or behavioural features that characterise a particular clinical variant and accounts for a large percentage of cases of X-linked mental retardation (XLMR). Genetic linkage studies showed it to have a high rate of genetic heterogeneity. DEVELOPMENT To date, genetic linkage studies or th...
متن کاملNon-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor.
Non-specific X-linked mental retardation (MRX) is a very common disorder which affects approximately 1 in 600 males. Despite this high frequency, little is known about the molecular defects underlying this disorder, mainly because of the clinical and genetic heterogeneity which is evident from linkage studies. Recently, a collaborative study using the candidate gene approach demonstrated the pr...
متن کاملMutations 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 کاملIdentification and Glycerol-Induced Correction of Misfolding Mutations in the X-Linked Mental Retardation Gene CASK
The overwhelming amount of available genomic sequence variation information demands a streamlined approach to examine known pathogenic mutations of any given protein. Here we seek to outline a strategy to easily classify pathogenic missense mutations that cause protein misfolding and are thus good candidates for chaperone-based therapeutic strategies, using previously identified mutations in th...
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ژورنال
عنوان ژورنال: Nature Genetics
سال: 1998
ISSN: 1061-4036,1546-1718
DOI: 10.1038/1001