Evidence for Three Subgroups of Female <i>FMR1</i> Premutation Carriers Defined by Distinct Neuropsychiatric Features: A Pilot Study.

ABSTRACT: Over 200 Cytosine-guanine-guanine (CGG) trinucleotide repeats in the 5' untranslated region of the Fragile X mental retardation 1 (FMR1) gene results in a "full mutation," clinically Fragile X Syndrome (FXS), whereas 55 - 200 repeats result in a "premutation." FMR1 premutation carriers (PMC) are at an increased risk for a range of psychiatric, neurocognitive, and physical conditions. Few studies have examined the variable expression of neuropsychiatric features in female PMCs, and whether heterogeneous presentation among female PMCs may reflect differential presentation of features in unique subgroups. In the current pilot study, we examined 41 female PMCs (ages 17-78 years) and 15 age-, sex-, and IQ-matched typically developing controls (TDC) across a battery of self-report,

SUBMITTER: Schmitt LM 

PROVIDER: S-EPMC8763356 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature