Broadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall Stature.

ABSTRACT:

Context

Natriuretic peptide receptor-C (NPR-C, encoded by NPR3) belongs to a family of cell membrane-integral proteins implicated in various physiological processes, including longitudinal bone growth. NPR-C acts as a clearance receptor of natriuretic peptides, including C-type natriuretic peptide (CNP), that stimulate the cGMP-forming guanylyl cyclase-coupled receptors NPR-A and NPR-B. Pathogenic variants in CNP, NPR2, and NPR3 may cause a tall stature phenotype associated with macrodactyly of the halluces and epiphyseal dysplasia.

Objective

Here we report on a boy with 2 novel biallelic inactivating variants of NPR3.

Methods

History and clinical characteristics were collected. Biochemical indices of natriuretic peptide clearance an

SUBMITTER: Lauffer P 

PROVIDER: S-EPMC8879884 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature