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

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

doi:10.1002/ccr3.1693

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

Clin Case Rep. 2018 Jul 3;6(8):1612-1617. doi: 10.1002/ccr3.1693. eCollection 2018 Aug.

Authors

Shiyuan Zhou^{1

2}, Fengyu Wang^{1

2}, Yongheng Dou^{1

2}, Jiping Zhou^{1

2}, Gefang Hao^{1

2}, Chengqi Xu³, Qing K Wang³, Haili Wang^{1

2}, Pengyun Wang⁴

Affiliations

¹ Henan Provincial Research Institute for Population and Family Planning Zhengzhou China.
² Key Laboratory of Birthdefects Prevention National Health and Family Planning Commission Zhengzhou China.
³ College of Life Science and Technology and Human Genome Research Center Huazhong University of Science and Technology Wuhan China.
⁴ Department of Clinical Laboratory Liyuan Hospital Tongji Medical Collage Huazhong University of Science and Technology Wuhan China.

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.

Keywords: congenital contractural arachnodactyly; exome sequencing; fibrillin‐2; mutation.

Publication types

Case Reports