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Prevalence of CGG expansions of the FMR1 gene in a US population‐based sample
Author(s) -
Seltzer Marsha Mailick,
Baker Mei Wang,
Hong Jinkuk,
Maenner Matthew,
Greenberg Jan,
Mandel Daniel
Publication year - 2012
Publication title -
american journal of medical genetics part b: neuropsychiatric genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.393
H-Index - 126
eISSN - 1552-485X
pISSN - 1552-4841
DOI - 10.1002/ajmg.b.32065
Subject(s) - fmr1 , fragile x syndrome , ataxia , population , pediatrics , demography , medicine , fragile x , gerontology , biology , psychiatry , genetics , gene , environmental health , sociology
The primary goal of this study was to calculate the prevalence of the premutation of the FMR1 gene and of the “gray zone” using a population‐based sample of older adults in Wisconsin (n = 6,747 samples screened). Compared with past research, prevalence was relatively high (1 in 151 females and 1 in 468 males for the premutation and 1 in 35 females and 1 in 42 males for the gray zone as defined by 45–54 CGG repeats). A secondary study goal was to describe characteristics of individuals found to have the premutation (n = 30, 7 males and 23 females). We found that premutation carriers had a significantly higher rate of divorce than controls, as well as higher rates of symptoms that might be indicative of fragile X‐associated tremor ataxia syndrome (FXTAS; numbness, dizziness/faintness) and fragile X primary ovarian insufficiency (FXPOI; age at last menstrual period). Although not statistically significant, premutation carriers were twice as likely to have a child with disability. © 2012 Wiley Periodicals, Inc.