A novel   FBN 2  mutation cosegregates with congenital contractural arachnodactyly in a five‐generation Chinese family | Zendy

Zhou Shiyuan | Zendy; Wang Fengyu | Zendy; Dou Yongheng | Zendy; Zhou Jiping | Zendy; Hao Gefang | Zendy; Xu Chengqi | Zendy; Wang Qing K. | Zendy; Wang Haili | Zendy; Wang Pengyun | Zendy

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A 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 .

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