Novel de novo TRPV4 mutation identified in a Chinese family with metatropic dysplasia inhibits chondrogenic differentiation  

作　　者：Ping Wei Weizhe Shi Tianying Nong Caixia Xian Xia Li Zhaohui Li Xin Li Jianping Wu Liyuan Shang Fulong Xu Yibo Xu Hongwen Xu Mingwei Zhu 

机构地区：[1]Guangzhou Institute of Pediatrics,Guangzhou Women and Children's Medical Center,Guangzhou Medical University,Guangdong Provincial Clinical Research Center for Child Health,Guangzhou,Guangdong 510623,China [2]Department of Pediatric Orthopedics,Guangzhou Women and Children's Medical Center,Guangzhou Medical University,Guangdong Provincial Clinical Research Center for Child Health,Guangzhou,Guangdong 510623,China

出　　处：《Genes & Diseases》2024年第3期83-86,共4页基因与疾病（英文）

基　　金：supported by the National Natural Science Foundation of China(No.81972038 to M.Z.);the Natural Science Foundation of Guangdong Province,China(No.2023A1515010281 to M.Z.).

摘　　要：Metatropicdysplasia(MD,MIM156530)is a rare congenital bone dysplasia primarily characterized by severe platyspondyly with long and wide vertebral bodies and dumbbell deformity of the tubular bones.MD can be caused by heterozygous mutations in the gene encoding transient receptor potential vanilloid family member 4(TRPV4).We identifieda novel de novo mutation,c.2353T>C,in the TRPV4 gene,in a Chinese family with mild MD.

关 键 词：TRPV4 DYSPLASIA CONGENITAL 

分 类 号：R68[医药卫生—骨科学]