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

Zhou, S.; Wang, F.; Dou, Y.; Zhou, J.; Hao, G.; Xu, C.; Wang, Q.K.; Wang, H.; Wang, P.

Clinical Case Reports 6(8): 1612-1617

2018

ISSN/ISBN: 2050-0904
PMID: 30147916
DOI: 10.1002/ccr3.1693
Accession: 048020044
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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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