A novel FBN2 mutation cosegregates with congenital contractural arachnodactyly in a five-generation Chinese family.

作者：Zhou Shiyuan; Wang Fengyu; Dou Yongheng; Zhou Jiping; Hao Gefang; Xu Chengqi; Wang Qing K; Wang Haili; Wang Pengyun

来源：Clin Case Rep, 2018, 6(8): 1612-1617.

DOI：10.1002/ccr3.1693

• congenital contractural arachnodactyly
• exome sequencing
• fibrillin-2
• mutation

We identified a novel heterozygous mutation (c.4177T>G and p.Cys1393Gly) in FBN2 that cosegregated with congenital contractural arachnodactyly (CCA) in a five-generation Chinese family. This mutation may cause the loss of the disulfide bond between Cys 1393 and Cys 1378 residues of fibrillin-2. Our study expands the genetic profile of CCA.

• 出版日期2018-8