HS6ST1 Insufficiency Causes Self-Limited Delayed Puberty in Contrast With Other GnRH Deficiency Genes.

ABSTRACT:

Context

Self-limited delayed puberty (DP) segregates in an autosomal-dominant pattern, but the genetic basis is largely unknown. Although DP is sometimes seen in relatives of patients with hypogonadotropic hypogonadism (HH), mutations in genes known to cause HH that segregate with the trait of familial self-limited DP have not yet been identified.

Objective

To assess the contribution of mutations in genes known to cause HH to the phenotype of self-limited DP.

Design, patients, and setting

We performed whole-exome sequencing in 67 probands and 93 relatives from a large cohort of familial self-limited DP, validated the pathogenicity of the identified gene variant in vitro, and examined the tissue expression and functional requirement of the mouse homolog in vivo.

Res

SUBMITTER: Howard SR 

PROVIDER: S-EPMC6126894 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature