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

ABSTRACT: 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.

SUBMITTER: Zhou S

PROVIDER: S-EPMC6099051 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature

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

Zhou Shiyuan S Wang Fengyu F Dou Yongheng Y Zhou Jiping J Hao Gefang G Xu Chengqi C Wang Qing K QK Wang Haili H Wang Pengyun P

Clinical case reports 20180703 8

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. ...[more]

PMID: 30147916

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A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly.

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