Document Detail


Prevalence of the fragile X syndrome in African-Americans.
MedLine Citation:
PMID:  12116230     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Since the development of a molecular diagnosis for the fragile X syndrome in the early 1990s, several population-based studies in Caucasians of mostly northern European descent have established that the prevalence is probably between one in 6,000 to one in 4,000 males in the general population. Reports of increased or decreased prevalence of the fragile X syndrome exist for a few other world populations; however, many of these are small and not population-based. We present here the final results of a 4-year study in the metropolitan area of Atlanta, Georgia, establishing the prevalence of the fragile X syndrome and the frequency of CGG repeat variants in a large Caucasian and African-American population. Results demonstrate that one-quarter to one-third of the children identified with the fragile X syndrome attending Atlanta public schools are not diagnosed before the age of 10 years. Also, a revised prevalence for the syndrome revealed a higher point estimate for African-American males (1/2,545; 95% CI: 1/5,208-1/1,289) than reported previously, although confidence intervals include the prevalence estimated for Caucasians from this (1/3,717; 95% CI: 1/7,692-1/1,869) and other studies. Further population-based studies in diverse populations are necessary to explore the possibility that the prevalence of the fragile X syndrome differs among world populations.
Authors:
Dana C Crawford; Kellen L Meadows; James L Newman; Lisa F Taft; Elizabeth Scott; Mary Leslie; Lisa Shubek; Patricia Holmgreen; Marshalyn Yeargin-Allsopp; Coleen Boyle; Stephanie L Sherman
Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  American journal of medical genetics     Volume:  110     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  2002 Jul 
Date Detail:
Created Date:  2002-07-12     Completed Date:  2002-10-08     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  226-33     Citation Subset:  IM    
Copyright Information:
Copyright 2002 Wiley-Liss, Inc.
Affiliation:
Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA.
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MeSH Terms
Descriptor/Qualifier:
African Continental Ancestry Group / genetics*
Alleles
Child
Female
Fragile X Mental Retardation Protein
Fragile X Syndrome / epidemiology,  genetics*
Gene Frequency
Humans
Male
Mutation
Nerve Tissue Proteins / genetics
Prevalence
RNA-Binding Proteins*
Trinucleotide Repeats / genetics
United States / epidemiology
Grant Support
ID/Acronym/Agency:
HD29909/HD/NICHD NIH HHS
Chemical
Reg. No./Substance:
0/FMR1 protein, human; 0/Nerve Tissue Proteins; 0/RNA-Binding Proteins; 139135-51-6/Fragile X Mental Retardation Protein

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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