| The fragile X syndrome. | |
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MedLine Citation:
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PMID: 9678703 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The fragile X syndrome is characterised by mental retardation, behavioural features, and physical features, such as a long face with large protruding ears and macro-orchidism. In 1991, after identification of the fragile X mental retardation (FMR1) gene, the cytogenetic marker (a fragile site at Xq27.3) became replaced by molecular diagnosis. The fragile X syndrome was one of the first examples of a "novel" class of disorders caused by a trinucleotide repeat expansion. In the normal population, the CGG repeat varies from six to 54 units. Affected subjects have expanded CGG repeats (>200) in the first exon of the FMR1 gene (the full mutation). Phenotypically normal carriers of the fragile X syndrome have a repeat in the 43 to 200 range (the premutation). The cloning of the FMR1 gene led to the characterisation of its protein product FMRP, encouraged further clinical studies, and opened up the possibility of more accurate family studies and fragile X screening programmes. |
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Authors:
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B B de Vries; D J Halley; B A Oostra; M F Niermeijer |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Review |
Journal Detail:
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Title: Journal of medical genetics Volume: 35 ISSN: 0022-2593 ISO Abbreviation: J. Med. Genet. Publication Date: 1998 Jul |
Date Detail:
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Created Date: 1998-10-01 Completed Date: 1998-10-01 Revised Date: 2011-08-01 |
Medline Journal Info:
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Nlm Unique ID: 2985087R Medline TA: J Med Genet Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 579-89 Citation Subset: IM |
Affiliation:
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Department of Clinical Genetics, University Hospital Dijkzigt and Erasmus University, Rotterdam, The Netherlands. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Chromosome Fragile Sites Chromosome Fragility DNA Mutational Analysis Female Fragile X Mental Retardation Protein Fragile X Syndrome / diagnosis, epidemiology, genetics* Genetic Testing Humans Male Mental Retardation / genetics Minisatellite Repeats Nerve Tissue Proteins / genetics Phenotype RNA-Binding Proteins* X Chromosome / genetics |
| Chemical | |
Reg. No./Substance:
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0/FMR1 protein, human; 0/Nerve Tissue Proteins; 0/RNA-Binding Proteins; 139135-51-6/Fragile X Mental Retardation Protein |
| Comments/Corrections | |
Comment In:
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J Med Genet. 1999 Feb;36(2):171-2
[PMID:
10051022
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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