Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/6950
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dc.contributor.authorGecz, J.en
dc.date.issued2000en
dc.identifier.citationAnnals of Human Genetics, 2000; 64(2):95-106en
dc.identifier.issn0003-4800en
dc.identifier.issn1469-1809en
dc.identifier.urihttp://hdl.handle.net/2440/6950-
dc.description.abstractFRAXE fragile site associated mental retardation remains unique among X-linked mental retardation phenotypes due to its very mild to borderline nature (50< IQ< 85). It is the most prevalent form of non-specific X-linked mental retardation so far delineated, with an estimated incidence of at least 1/50-100,000 males, and with more than 50 families known worldwide. The FRAXE site is within, or immediately adjacent to, the 5' untranslated region of the FMR2 gene. Hyperexpansion of the FRAXE CCG repeat silences transcription of the gene. The structure of FMR2 has been characterized, but its function remains unknown. Gene localizations for numerous (> 75) large families with non-specific X-linked mental retardation (MRX) have been determined so far. Recently the molecular basis for some of them has been unravelled by identification of the responsible genes, which participate in complex common signalling pathways. This review summarises the new data on FRAXE associated mental retardation and the FMR2 gene in the light of the recent discoveries of new genes responsible for other forms of non-specific X-linked mental retardation.en
dc.language.isoenen
dc.publisherBlackwell Publishing Ltden
dc.subjectX Chromosome; Humans; Fragile X Syndrome; Chromosome Fragility; Proteins; Trans-Activators; Nuclear Proteins; Phenotype; Mutation; Chromosome Fragile Sites; Male; Genetic Testing; Genetic Linkage; Intellectual Disabilityen
dc.titleThe FMR2 gene, FRAXE and non-specific X-linked mental retardation: clinical and molecular aspectsen
dc.typeJournal articleen
dc.identifier.rmid0001000262en
dc.identifier.doi10.1017/S0003480000007983en
dc.identifier.pubid63837-
pubs.library.collectionPaediatrics publicationsen
pubs.verification-statusVerifieden
pubs.publication-statusPublisheden
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]en
Appears in Collections:Paediatrics publications

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