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

IF 1.7 4区生物学 Q3 GENETICS & HEREDITY

American Journal of Medical Genetics Part A Pub Date : 2026-10-16 DOI:10.1002/ajmg.a.70331

Deepak Amalnath, Shreya Rajagopal, Chandan Akkadka

引用次数: 0

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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双等位基因NPPC变异引起肢端粒型矮小的首次报道。

c型利钠肽（CNP）通过作用于其受体NPR-B促进长骨软骨细胞成熟和生长。据报道，CNP和NPR-B活性的增加导致身材高大，而NPR-B活性的降低导致身材矮小。编码CNP的NPPC单等位基因功能丧失变异已在特发性身材矮小患者中报道。我们报告了一位由于NPPC编码CNP的双等位错义变异而导致的端端粒型身材矮小的患者。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

American Journal of Medical Genetics Part A 生物-遗传学

CiteScore

3.50

自引率

5.00%

发文量

432

审稿时长

2-4 weeks

期刊介绍： The American Journal of Medical Genetics - Part A (AJMG) gives you continuous coverage of all biological and medical aspects of genetic disorders and birth defects, as well as in-depth documentation of phenotype analysis within the current context of genotype/phenotype correlations. In addition to Part A , AJMG also publishes two other parts: Part B: Neuropsychiatric Genetics , covering experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders. Part C: Seminars in Medical Genetics , guest-edited collections of thematic reviews of topical interest to the readership of AJMG .