Prevalence of CGG expansions of the FMR1 gene in a US population-based sample

• Published in: American journal of medical genetics. Part B, Neuropsychiatric genetics Vol. 159B; no. 5; pp. 589 - 597
• Main Authors: Seltzer, Marsha Mailick, Baker, Mei Wang, Hong, Jinkuk, Maenner, Matthew, Greenberg, Jan, Mandel, Daniel
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.07.2012; Wiley-Liss; Wiley Subscription Services, Inc
• Subjects: Adult; Age; Biological and medical sciences; Case-Control Studies; Chromosome fragility (bloom syndrome, ataxia telangiectasia, fanconi anemia, x-linked mental retardation...); Female; FMR1 premutation and gray zone CGG expansions; Fragile X Mental Retardation Protein - genetics; Genetics; Genetics, Population; Humans; Longitudinal Studies; Male; Medical genetics; Medical sciences; Middle Aged; Mutation - genetics; Phenotype; Prevalence; Trinucleotide Repeat Expansion - genetics; United States; Wisconsin; United States; North America; America; Wisconsin; Human; Chromosome fragility; FMR1 premutation and gray zone CGG expansions; Prevalence; Sample; Population; Fragile X syndrome; Expansion; Public health
• ISSN: 1552-4841; 1552-485X
• DOI: 10.1002/ajmg.b.32065

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.