title: Prevalence of CGG expansions of the FMR1 gene in a US population-based sample.
abstract: 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.
authors.affiliation: Waisman Center, University of Wisconsin-Madison, Madison, Wisconsin 53705, USA. mseltzer@waisman.wisc.edu
authors.forename: Marsha Mailick
authors.initials: MM
authors.lastname: Seltzer
authors.forename: Mei Wang
authors.initials: MW
authors.lastname: Baker
authors.forename: Jinkuk
authors.initials: J
authors.lastname: Hong
authors.forename: Matthew
authors.initials: M
authors.lastname: Maenner
authors.forename: Jan
authors.initials: J
authors.lastname: Greenberg
authors.forename: Daniel
authors.initials: D
authors.lastname: Mandel
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005828:Genetics, Population; D006801:Humans; D008137:Longitudinal Studies; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D015995:Prevalence; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*; D014481:United States; D014922:Wisconsin
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human