Behavioural and psychiatric phenotypes in female carriers of genetic mutations associated with X-linked ichthyosis.

ABSTRACT: X-linked ichthyosis (XLI) is a rare X-linked dermatological condition arising from deficiency for the enzyme steroid sulfatase (STS). STS is normally expressed in the brain, and males with XLI exhibit personality differences from males in the general population, and are at increased risk of developmental and mood disorders. As the STS gene escapes X-inactivation, female carriers of XLI-associated genetic mutations have reduced STS expression/activity relative to non-carrier females, and could manifest similar behavioural phenotypes to males with XLI. Additionally, as STS activity normally increases in female tissues towards late pregnancy and into the puerperium, carrier females could theoretically present with increased rates of postpartum psychopathology. Using a worldwide online survey

SUBMITTER: Cavenagh A 

PROVIDER: S-EPMC6377116 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature