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Updated: Mar 30, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Acromesomelic dysplasia, type maroteaux caused by novel loss-of-function mutations of the NPR2 gene: Three case

Wei Wang1, Mi Hyun Song2, Kohji Miura1

  • 1Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan.

American Journal of Medical Genetics. Part A
|November 15, 2015
PubMed

Insights

This study identified five novel mutations in the NPR2 gene causing acromesomelic dysplasia, type Maroteaux (AMDM). Some NPR2 mutations completely abolish function, while others result in limited receptor activity.

Area of Science:

  • Genetics and Molecular Biology
  • Endocrinology
  • Skeletal Dysplasias

Background:

  • The C-type natriuretic peptide (CNP)-natriuretic peptide receptor 2 (NPR2) pathway is crucial for chondrocyte development.
  • Mutations in the NPR2 gene lead to acromesomelic dysplasia, type Maroteaux (AMDM), a rare genetic disorder.

Observation:

  • Five novel NPR2 mutations were identified in three Korean patients with AMDM.
  • Patients exhibited elevated serum NT-proCNP levels.
  • Mutant NPR2 proteins showed varied responses to CNP stimulation in vitro.

Findings:

  • Two mutations (Tyr411His and Arg921X) resulted in complete loss-of-function due to impaired protein trafficking from the endoplasmic reticulum.
  • One mutation (Arg921Gln) led to a partially functional receptor.
  • Nonsense mutations also caused loss-of-function.

Implications:

  • Understanding these NPR2 mutations provides insight into AMDM pathogenesis.
  • Characterizing NPR2 function aids in diagnosing and potentially treating skeletal dysplasias.
  • This research highlights the importance of NPR2 in skeletal development and growth.
Keywords:
C-type natriuretic peptideNPR2acromesomelic dysplasia, type MaroteauxcGMPshort stature

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