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Article

Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene.

American journal of medical genetics. Part A - 1 Jan 2014

Miura Kohji, Kim Ok-Hwa, Lee Hey Ran, Namba Noriyuki, Michigami Toshimi, Yoo Won Joon, Choi In Ho, Ozono Keiichi, Cho Tae-Joon

Abstract excerpt

The signal pathway of the C-type natriuretic (CNP) and its receptor, natriuretic peptide receptor 2 (NPR2) is involved in the longitudinal growth of long bones. Loss of function mutations at NPR2 cause acromesomelic dysplasia, type Maroteaux, while overproduction of CNP by chromosomal translocation and a gain-of-function mutation at NPR2 have been reported to be responsible for an overgrowth syndrome in three...

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Source

Identifiers

PMID: 24259409
DOI: 10.1002/ajmg.a.36218

Genes

NPR2
CNP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

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Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene.PMID 24259409Read ↗

An Overgrowth Disorder Associated with Excessive Production of cGMP Due to a Gain-of-Function Mutation of the Natriuretic Peptide Receptor 2 GeneSemantic proximity Read ↗

C-type natriuretic peptide and overgrowth.Semantic proximity Read ↗

Role of the natriuretic peptide system in normal growth and growth disorders.Semantic proximity Read ↗

Skeletal overgrowth syndrome caused by overexpression of C-type natriuretic peptide in a girl with balanced chromosomal translocation, t(1;2)(q41;q37.1).Semantic proximity Read ↗

An activating mutation in the kinase homology domain of the natriuretic peptide receptor-2 causes extremely tall stature without skeletal deformities.Semantic proximity Read ↗

Novel mutations in natriuretic peptide receptor-2 gene underlie acromesomelic dysplasia, type maroteauxSemantic proximity Read ↗

Functional analysis of NPR2 variants supports the therapeutic rationale for CNP in short stature.Semantic proximity Read ↗

Molecular and in silico analyses validates pathogenicity of homozygous mutations in the NPR2 gene underlying variable phenotypes of Acromesomelic dysplasia, type Maroteaux.Semantic proximity Read ↗

Short Stature is Progressive in Patients with Heterozygous NPR2 Mutations.Semantic proximity Read ↗

Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature.Semantic proximity Read ↗

Heterozygous mutations in natriuretic peptide receptor-B (NPR2) are associated with short stature.Semantic proximity Read ↗

Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocationSemantic proximity Read ↗

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