Document Detail

Premature ovarian failure and FRAXA premutation: Positive correlation in a Brazilian survey.
MedLine Citation:
PMID:  15054835     Owner:  NLM     Status:  MEDLINE    
Fragile X syndrome (FRAXA) is the most common form of inherited mental retardation (MR). The mutational mechanism leading to the disease involves an expansion of a trinucleotide repeat located at the 5' UTR region of the gene FMR-1. Four types of alleles can be identified in the population, based on the number of repeats: normal (6-40), gray-zone (41-60), premutated (61-200), and fully mutated (>200). Despite only full mutations being associated with the development of the disorder, some authors propose a correlation between FRAXA premutation and the occurrence of premature ovarian failure (POF). We have undertaken a study in 58 women from 24 fragile X syndrome families ascertained for FRAXA testing. Using Southern blotting for direct DNA analysis we have identified 19 normal, 33 premutation carriers, and 6 fully mutated individuals (including 4 somatic mosaics showing premutated and fully mutated alleles). Among the premutated women, 11 experienced menopause before the age of 40 (POF), including one somatic mosaic, which was different from the ones with normal pattern who did not experience POF. Our data corroborate the notion that females carrying alleles in the premutation range are at high risk of experiencing POF.
Maria do Carmo Machado-Ferreira; Marcelo A Costa-Lima; Raquel T Boy; Gabriela S Esteves; Márcia M G Pimentel
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  126A     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2004 Apr 
Date Detail:
Created Date:  2004-03-31     Completed Date:  2004-04-23     Revised Date:  2008-05-21    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  237-40     Citation Subset:  IM    
Copyright Information:
Copyright 2004 Wiley-Liss, Inc.
Department of Cell Biology and Genetics, State University of Rio de Janeiro, Rio de Janeiro, Brazil.
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MeSH Terms
Chromosome Segregation*
Chromosomes, Human, X / genetics*
Fragile X Mental Retardation Protein
Fragile X Syndrome / genetics*
Gene Silencing
Middle Aged
Nerve Tissue Proteins / genetics*
Ovarian Failure, Premature / genetics*
RNA-Binding Proteins*
Trinucleotide Repeat Expansion
Reg. No./Substance:
0/FMR1 protein, human; 0/Nerve Tissue Proteins; 0/RNA-Binding Proteins; 139135-51-6/Fragile X Mental Retardation Protein

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