Pathogenic and Low-Frequency Variants in Children With Central Precocious Puberty.

ABSTRACT:

Background

Central precocious puberty (CPP) due to premature activation of GnRH secretion results in early epiphyseal fusion and to a significant compromise in the achieved final adult height. Currently, few genetic determinants of children with CPP have been described. In this translational study, rare sequence variants in MKRN3, DLK1, KISS1, and KISS1R genes were investigated in patients with CPP.

Methods

Fifty-four index girls and two index boys with CPP were first tested by Sanger sequencing for the MKRN3 gene. All children found negative (n = 44) for the MKRN3 gene were further investigated by whole exome sequencing (WES). In the latter analysis, the status of variants in genes known to be related with pubertal timing was

SUBMITTER: Neocleous V 

PROVIDER: S-EPMC8498594 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature