Short Stature is Progressive in Patients with Heterozygous NPR2 Mutations.

ABSTRACT:

Background

NPR2 encodes atrial natriuretic peptide receptor B (ANPRB), a regulator of skeletal growth. Biallelic loss-of-function mutations in NPR2 result in acromesomelic dysplasia Maroteaux type (AMDM; OMIM 602875), while heterozygous mutations may account for 2% to 6% of idiopathic short stature (ISS).

Objective

Describe the physical proportions and growth characteristics of an extended family with novel NPR2 mutations including members with AMDM, ISS, or normal stature.

Design and participants

We performed whole exome sequencing in 2 healthy parents and 2 children with AMDM. Detailed genotyping and phenotyping were performed on members of a multigenerational family in an academic medical center. We expressed mutant proteins in mammalian cells and characterized exp

SUBMITTER: Hanley PC 

PROVIDER: S-EPMC7442278 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature