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

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 associa

SUBMITTER: Wei P 

PROVIDER: S-EPMC11525624 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature