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

Shiyuan ZhouFengyu WangYongheng DouJiping ZhouGefang HaoCheng-Qi XuQing K WangHaili WangPengyun Wang

Published in: Clinical case reports (2018)

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.

Keyphrases

early onset
genome wide
copy number