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...

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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
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author Zhou, Shiyuan
Wang, Fengyu
Dou, Yongheng
Zhou, Jiping
Hao, Gefang
Xu, Chengqi
Wang, Qing K.
Wang, Haili
Wang, Pengyun
author_facet Zhou, Shiyuan
Wang, Fengyu
Dou, Yongheng
Zhou, Jiping
Hao, Gefang
Xu, Chengqi
Wang, Qing K.
Wang, Haili
Wang, Pengyun
author_sort Zhou, Shiyuan
collection PubMed
description 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.
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spelling pubmed-60990512018-08-24 A novel FBN2 mutation cosegregates with congenital contractural arachnodactyly in a five‐generation Chinese family Zhou, Shiyuan Wang, Fengyu Dou, Yongheng Zhou, Jiping Hao, Gefang Xu, Chengqi Wang, Qing K. Wang, Haili Wang, Pengyun Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2018-07-03 /pmc/articles/PMC6099051/ /pubmed/30147916 http://dx.doi.org/10.1002/ccr3.1693 Text en © 2018 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Zhou, Shiyuan
Wang, Fengyu
Dou, Yongheng
Zhou, Jiping
Hao, Gefang
Xu, Chengqi
Wang, Qing K.
Wang, Haili
Wang, Pengyun
A novel FBN2 mutation cosegregates with congenital contractural arachnodactyly in a five‐generation Chinese family
title A novel FBN2 mutation cosegregates with congenital contractural arachnodactyly in a five‐generation Chinese family
title_full A novel FBN2 mutation cosegregates with congenital contractural arachnodactyly in a five‐generation Chinese family
title_fullStr A novel FBN2 mutation cosegregates with congenital contractural arachnodactyly in a five‐generation Chinese family
title_full_unstemmed A novel FBN2 mutation cosegregates with congenital contractural arachnodactyly in a five‐generation Chinese family
title_short A novel FBN2 mutation cosegregates with congenital contractural arachnodactyly in a five‐generation Chinese family
title_sort novel fbn2 mutation cosegregates with congenital contractural arachnodactyly in a five‐generation chinese family
topic Case Reports
url 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
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