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

摘要

Key Clinical Message We identified a novel heterozygous mutation (c.4177TG 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.