Lab Update 14 (Version 2) - Genetic Testing For FMR1 Disorders
Jan 01, 2020 | Genetics
The FMR1 disorders include fragile X syndrome (FXS), fragile X-associated tremor/ataxia syndrome (FXTAS), and fragile X-associated primary ovarian insufficiency (FXPOI). FXS is the most common single gene cause of intellectual disability with an estimated prevalence of 1/4000 to 1/6000. Almost all cases are caused by the expansion of an unstable trinucleotide (triplet) (CGG) repeat in the 5’ untranslated region of the FMR1 gene....
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