Article
FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2011
Hantash Feras M, Goos Dana M, Crossley Beryl, Anderson Ben, Zhang Ke, Sun Weimin, Strom Charles M
Abstract excerpt
PURPOSE: Fragile X syndrome is caused by expansion and methylation of a CGG tract in the 5' untranslated region of the FMR1 gene. The estimated frequency of expanded alleles (≥55 repeats) in the United States is 1:257-1:382, but these estimates were not calculated from unbiased populations. We sought to determine the frequency of fragile X syndrome premutation (55-200 repeats) and full mutation (>200 repeats)...
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