Novel pathogenic NPR2 variants in short stature patients and the therapeutic response to rhGH.

ABSTRACT:

Objective

Heterozygous loss-of-function variants in the NPR2 gene cause short stature with nonspecific skeletal abnormalities and account for about 2 ~ 6% of idiopathic short stature. This study aimed to analyze and identify pathogenic variants in the NPR2 gene and explore the therapeutic response to recombinant growth hormone (rhGH).

Methods

NPR2 was sequenced in three Chinese Han patients with short stature via exome sequencing. In vitro functional experiments, homology modeling and molecular docking analysis of variants were performed to examine putative protein changes and the pathogenicity of the variants.

Result

Three patients received rhGH therapy for two years, and two NPR2 heterozygous variants were identified in three unrelated cases: c.1579 C > T,p.Leu527Ph

SUBMITTER: Chen H 

PROVIDER: S-EPMC10375756 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature