First Report of Biallelic NPPC Variants Causing Acromesomelic Type of Short Stature.

Authors

Deepak Amalnath, Shreya Rajagopal, Chandan Akkadka

Published in

American journal of medical genetics. Part A. Oct 16, 2026. Epub Oct 16, 2026.

Abstract

C-type natriuretic peptide (CNP) increases chondrocyte maturation and growth of long bones by acting on its receptor NPR-B. Increased activity of CNP and NPR-B has been reported to cause tall stature while decreased activity of NPR-B causes short stature. Monoallelic loss-of-function variants in NPPC, which codes for CNP, have been reported in patients with idiopathic short stature. We report a patient with acromesomelic type of short stature due to biallelic missense variants in NPPC which codes for CNP.

PMID:
42888861
Bibliographic data and abstract were imported from PubMed on 17 Oct 2026.

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