An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome.

ABSTRACT:

Context

Severe short stature can be caused by defects in numerous biological processes including defects in IGF-1 signaling, centromere function, cell cycle control, and DNA damage repair. Many syndromic causes of short stature are associated with medical comorbidities including hypogonadism and microcephaly.

Objective

To identify an underlying genetic etiology in two siblings with severe short stature and gonadal failure.

Design

Clinical phenotyping, genetic analysis, complemented by in vitro functional studies of the candidate gene.

Setting

An academic pediatric endocrinology clinic.

Patients or other participants

Two adult siblings (male patient [P1] and female patient 2 [P2]) presented with a history of severe postnatal growth failure (adult heights:

SUBMITTER: de Bruin C 

PROVIDER: S-EPMC4422886 | biostudies-literature | 2015 May

REPOSITORIES: biostudies-literature