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

• Published in: Biochemistry and biophysics reports Vol. 40; p. 101845
• Main Authors: Wei, Ping, Xu, Fulong, Xian, Caixia, Liu, Yanhan, Xu, Yibo, Zhang, Ting, Shi, Weizhe, Huang, Sihong, Zhou, Xiang, Zhu, Mingwei, Xu, Hongwen
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 01.12.2024; Elsevier
• Subjects: MYH7; Neuromuscular scoliosis; Short Communication; Skeletal myopathy; Whole-exome sequencing; Skeletal myopathy; Neuromuscular scoliosis; Whole-exome sequencing; MYH7
• ISSN: 2405-5808; 2405-5808
• DOI: 10.1016/j.bbrep.2024.101845

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. •A Chinese family with two members suffering from neuromuscular scoliosis.•The MYH7 gene variant, c.2011C > T (p.R671C) cosegregated with the scoliosis phenotype.•Most of MYH7 variants that cause scoliosis located in the distal region of the C-terminal rod tail domain of Myosin-7.