Novel compound heterozygous TTN gene variants with additional potential contributory mutations in two sisters with severe scoliosis:A case report  

作　　者：Huaiyuan Wang Shengjie Li Weiyun Chen Jianxiong Shen 

机构地区：[1]Department of Anesthesiology,Peking Union Medical College Hospital,Beijing 100730,China [2]Biomedical Engineering Facility of National Infrastructures for Translational Medicine,Peking Union Medical College Hospital,Beijing 100730,China [3]Department of Orthopedic Surgery,Peking Union Medical College Hospital,Beijing 100730,China

出　　处：《Genes & Diseases》2025年第3期57-60,共4页基因与疾病(英文)

基　　金：supported by the National Natural Science Foundation of China(No.82272446).

摘　　要：Titin,the largest known protein in nature,is a giant sarcomeric protein that plays essential architectural,developmental,and regulatory roles in striated muscles.Mutations in the TTN gene(MIM:188840)that encodes titin are related to a broad range of muscle diseases known as titinopathies,with diverse clinical manifestations including weakness,contractures,scoliosis,respiratory failure,and cardiomyopathy.1 In this case report,we describe two sisters with severe scoliosis,both carrying novel compound heterozygous variants in the TTN gene,yet presenting distinct clinical phenotypes,adding to the growing body of evidence linking TTN mutations to scoliosis and other titinrelated disorders.

关 键 词：compound heterozygous variants muscle diseases giant sarcomeric protein titinopathies SCOLIOSIS striated musclesmutations TITIN 

分 类 号：R681.5[医药卫生—骨科学]