Deleterious variants in intolerant genes reveal new candidates for self-limited delayed puberty.

ABSTRACT:

Objective

Self-limited delayed puberty (SLDP) is the most common cause of delayed puberty and exhibits high heritability, although few causal genes have been identified. This study aims to identify potential candidate genes associated with SLDP.

Methods

Whole-exome sequencing was conducted in 71 children with SLDP, most of whom presented with short stature. Rare coding variants were prioritized through comprehensive bioinformatics analyses and classified as high-impact or moderate-impact based on predicted functional effects. Candidate genes were selected based on the absence of human phenotype data, recurrence within the cohort, intolerance to mutation, and prior identification in genome-wide association studies. Burden tests compared the frequency of rare high-impact varia

SUBMITTER: Rezende RC 

PROVIDER: S-EPMC12013340 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature