Contributions of Function-Altering Variants in Genes Implicated in Pubertal Timing and Body Mass for Self-Limited Delayed Puberty.

ABSTRACT:

Context

Self-limited delayed puberty (DP) is often associated with a delay in physical maturation, but although highly heritable the causal genetic factors remain elusive. Genome-wide association studies of the timing of puberty have identified multiple loci for age at menarche in females and voice break in males, particularly in pathways controlling energy balance.

Objective/main outcome measures

We sought to assess the contribution of rare variants in such genes to the phenotype of familial DP.

Design/patients

We performed whole-exome sequencing in 67 pedigrees (125 individuals with DP and 35 unaffected controls) from our unique cohort of familial self-limited DP. Using a whole-exome sequencing filtering pipeline one candidate gene [fat mass and obesity-associated g

SUBMITTER: Howard SR 

PROVIDER: S-EPMC5800831 | biostudies-literature | 2018 Feb

REPOSITORIES: biostudies-literature