The findings and conclusions in this article are those of the authors and do not necessarily represent the official position of the Centers for Disease Control and Prevention.
Article first published online: 22 MAY 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Volume 159B, Issue 5, pages 589–597, July 2012
How to Cite
Seltzer, M. M., Baker, M. W., Hong, J., Maenner, M., Greenberg, J. and Mandel, D. (2012), Prevalence of CGG expansions of the FMR1 gene in a US population-based sample. Am. J. Med. Genet., 159B: 589–597. doi: 10.1002/ajmg.b.32065
How to Cite this Article: Seltzer MM, Baker MW, Hong J, Maenner M, Greenberg J, Mandel D. 2012. Prevalence of CGG expansions of the FMR1 gene in a US population-based sample. Am J Med Genet Part B 159B:589–597.
- Issue published online: 5 JUN 2012
- Article first published online: 22 MAY 2012
- Manuscript Accepted: 26 APR 2012
- Manuscript Received: 31 OCT 2011
- Centers for Disease Control and Prevention through the Association of University Centers on Disability
- Wisconsin Longitudinal Study. Grant Number: P01 AG021079
- Waisman IDDRC Core Grant. Grant Number: P30 HD03352
- FMR1 premutation and gray zone CGG expansions;
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.