Central precocious puberty caused by mutations in the imprinted gene MKRN3.

ABSTRACT:

Background

The onset of puberty is first detected as an increase in pulsatile secretion of gonadotropin-releasing hormone (GnRH). Early activation of the hypothalamic-pituitary-gonadal axis results in central precocious puberty. The timing of pubertal development is driven in part by genetic factors, but only a few, rare molecular defects associated with central precocious puberty have been identified.

Methods

We performed whole-exome sequencing in 40 members of 15 families with central precocious puberty. Candidate variants were confirmed with Sanger sequencing. We also performed quantitative real-time polymerase-chain-reaction assays to determine levels of messenger RNA (mRNA) in the hypothalami of mice at different ages.

Results

We identified four novel heterozygou

SUBMITTER: Abreu AP 

PROVIDER: S-EPMC3808195 | biostudies-literature | 2013 Jun

REPOSITORIES: biostudies-literature