Open AccessA novel FBN 2 mutation cosegregates with congenital contractural arachnodactyly in a five‐generation Chinese family
Author(s) -
Zhou Shiyuan,
Wang Fengyu,
Dou Yongheng,
Zhou Jiping,
Hao Gefang,
Xu Chengqi,
Wang Qing K.,
Wang Haili,
Wang Pengyun
Publication year - 2018
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.1693
Subject(s) - arachnodactyly , mutation , medicine , genetics , gene , biology , marfan syndrome
Key Clinical Message We identified a novel heterozygous mutation (c.4177T>G and p.Cys1393Gly) in FBN 2 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 .