MYH7, c.2011C>T, is responsible for congenital scoliosis in a Chinese family

IF 2.3 Q3 BIOCHEMISTRY & MOLECULAR BIOLOGY

Biochemistry and Biophysics Reports Pub Date : 2024-10-13 DOI:10.1016/j.bbrep.2024.101845

Ping Wei , Fulong Xu , Caixia Xian , Yanhan Liu , Yibo Xu , Ting Zhang , Weizhe Shi , Sihong Huang , Xiang Zhou , Mingwei Zhu , Hongwen Xu

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引用次数: 0

Abstract

Neuromuscular scoliosis can be caused by muscular or nervous system dysfunction resulting from genetic variants. Variation in MYH7 may cause hypertrophic or dilated cardiomyopathy, skeletal myopathies, or a combination of both; however, scoliosis has rarely been reported. We analyzed a Chinese pedigree with two members suffering from scoliosis. Whole-exome sequencing identified a variant (NM_000257.4:c.2011C > T) of MYH7 that cosegregated with the scoliosis phenotype. The variant resulted in a change in the evolutionarily conserved amino acid residue 671 from arginine to cystine (p.R671C), which was predicted to disrupt the structure and function of the motor domain of the slow/β-cardiac myosin heavy chain encoded by MYH7. To date, 913 MYH7 variants were associated with cardiomyopathy and/or skeletal myopathies according to the Human Gene Mutation Database. However, only 15 cases of scoliosis have been reported. In our case, the c.2011C > T variant caused scoliosis with 100 % penetrance and hypertrophic cardiomyopathy with partial penetrance.

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MYH7，c.2011C>T，是一个中国家族先天性脊柱侧弯症的病因

神经肌肉脊柱侧弯可由基因变异导致的肌肉或神经系统功能障碍引起。MYH7的变异可能导致肥厚型或扩张型心肌病、骨骼肌病或两者的合并症；然而，脊柱侧弯却很少见报道。我们分析了一个有两名脊柱侧弯患者的中国血统。全基因组测序发现了一个与脊柱侧凸表型共整合的MYH7变异体（NM_000257.4:c.2011C >T）。该变异导致进化保守的氨基酸残基 671 从精氨酸变为胱氨酸（p.R671C），据预测，这将破坏 MYH7 编码的慢/β-心肌肌球蛋白重链运动结构域的结构和功能。迄今为止，根据人类基因突变数据库（Human Gene Mutation Database），913 个 MYH7 变异与心肌病和/或骨骼肌病相关。然而，仅有15例脊柱侧弯的报道。在我们的病例中，c.2011C >T变异导致100%渗透性脊柱侧弯和部分渗透性肥厚型心肌病。

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

Biochemistry and Biophysics Reports Biochemistry, Genetics and Molecular Biology-Biophysics

CiteScore

4.60

自引率

0.00%

发文量

191

审稿时长

59 days

期刊介绍： Open access, online only, peer-reviewed international journal in the Life Sciences, established in 2014 Biochemistry and Biophysics Reports (BB Reports) publishes original research in all aspects of Biochemistry, Biophysics and related areas like Molecular and Cell Biology. BB Reports welcomes solid though more preliminary, descriptive and small scale results if they have the potential to stimulate and/or contribute to future research, leading to new insights or hypothesis. Primary criteria for acceptance is that the work is original, scientifically and technically sound and provides valuable knowledge to life sciences research. We strongly believe all results deserve to be published and documented for the advancement of science. BB Reports specifically appreciates receiving reports on: Negative results, Replication studies, Reanalysis of previous datasets.