Identification and functional analysis of NPR2 truncating mutations in two Chinese families with short stature.

ABSTRACT:

Background

The signaling pathway of C-type natriuretic peptide (CNP) and its receptor (natriuretic peptide receptor 2, NPR2) is implicated in the process of endochondral ossification, which is crucial for the linear growth of long bones. Loss-of-function mutations in the NPR2 gene cause short stature. This study aimed to identify and characterize truncating mutations in NPR2 among Chinese families with short stature.

Methods

Whole-exome sequencing and Sanger sequencing were conducted to identify potential mutations. Bioinformatic analysis was utilized to assess the pathogenicity of two mutations. The effects of candidate mutation on gene expression, subcellular localization, protein stability, and protein function were further assessed through in vitro assays.

Results

SUBMITTER: Wei S 

PROVIDER: S-EPMC11849161 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature