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The MTMR11 variants identified in a short stature cohort compromise the dephosphorylation ability of MTM1 on SMAD5 to up-regulate BMP signaling

Rapid Communications

The MTMR11 variants identified in a short stature cohort compromise the dephosphorylation ability of MTM1 on SMAD5 to up-regulate BMP signaling

Yang Kai
Li Hongdou
Peng Rui
Wu Bo
Shen Yiping
Zhao Tongjin
Li Chentao
Wang Weimin
Wang Hongyan
Genes & Diseases第12卷, 第4期纸质出版 2025-07-01在线发表 2024-08-21
8000

Short stature is clinically defined as a standing height less than two standard deviations below the mean height at the same age, ethnicity, and sex. As a typical complex symptom, height has a high heritability of 80%, which is affected by multiple genes and gene–gene interactions. A genome-wide association study (GWAS) revealed that 23.3% of the heritability of short stature could be explained by 697 independent variants.1 Whole exome sequencing of a large sample size demonstrated that 83 rare and low-frequency variants could explain 1.7% heritability of height, and variants with minor allele frequency <5% have an average effect 10 times greater than that of common variants.2 Here, we analyzed the whole exome sequencing data of 787 short-stature children to find new genes contributing to short stature in Chinese children.

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