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

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. O...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhou, Shiyuan, Wang, Fengyu, Dou, Yongheng, Zhou, Jiping, Hao, Gefang, Xu, Chengqi, Wang, Qing K., Wang, Haili, Wang, Pengyun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6099051/
https://www.ncbi.nlm.nih.gov/pubmed/30147916
http://dx.doi.org/10.1002/ccr3.1693
Descripción
Sumario: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.

Ejemplares similares