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Updated: Oct 18, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
First Report of Biallelic NPPC Variants Causing Acromesomelic Type of Short Stature
Deepak Amalnath1, Shreya Rajagopal1, Chandan Akkadka1
1Department of Medicine, Jawaharlal Institute of Postgraduate Medical Education & Research (JIPMER), Puducherry, India.
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.
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