Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders

• Published in: Npj genomic medicine Vol. 7; no. 1; p. 11
• Main Authors: Zhao, Sen, Zhang, Yuanqiang, Hallgrimsdottir, Sigrun, Zuo, Yuzhi, Li, Xiaoxin, Batkovskyte, Dominyka, Liu, Sen, Lindelöf, Hillevi, Wang, Shengru, Hammarsjö, Anna, Yang, Yang, Ye, Yongyu, Wang, Lianlei, Yan, Zihui, Lin, Jiachen, Yu, Chenxi, Chen, Zefu, Niu, Yuchen, Wang, Huizi, Zhao, Zhi, Liu, Pengfei, Qiu, Guixing, Posey, Jennifer E., Wu, Zhihong, Lupski, James R., Micule, Ieva, Anderlid, Britt-Marie, Voss, Ulrika, Sulander, Dennis, Kuchinskaya, Ekaterina, Nordgren, Ann, Nilsson, Ola, Zhang, Terry Jianguo, Grigelioniene, Giedre, Wu, Nan
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 15.02.2022; Nature Publishing Group; Nature Portfolio
• Subjects: 631/208/1516; 631/208/2489/144; Arthrogryposis; Bioinformatics; Biomedical and Life Sciences; Biomedicine; Gene Function; Gene Therapy; Genetic variability; Human Genetics; Internal Medicine; Mutation; Patients; Phenotypes; Phosphorylation; Segmentation; Signal transduction; Smad3 protein; Transforming growth factor-b; Vertebrae

Pathogenic variants in MYH3 cause distal arthrogryposis type 2A and type 2B3 as well as contractures, pterygia and spondylocarpotarsal fusion syndromes types 1A and 1B. These disorders are ultra-rare and their natural course and phenotypic variability are not well described. In this study, we summar...