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A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly.


ABSTRACT: Congenital contractural arachnodactyly (CCA, OMIM: 121050) is an autosomal dominant condition that shares skeletal features with Marfan syndrome (MFS, OMIM: 154700), including contractures, arachnodactyly, dolichostenomelia, scoliosis, crumpled ears and pectus deformities but excluding the ocular and cardiovascular complications that characterize MFS. These two similar syndromes result from mutations in two genes belonging to the fibrillin family, FBN1 and FBN2, respectively. We successfully identified a novel FBN2 mutation (C1406R) in a Chinese family with CCA for over five generations. This mutation was detected in the patients of this family but not in the seven unaffected family members or 100 normal individuals. SIFT and PolyPhen analyses suggested that the mutation was pathogenic. We identified a missense mutation in the calcium binding-epidermal growth factor (cbEGF)-like domain. Our study extends the mutation spectrum of CCA and confirms a relationship between mutations in the FBN2 gene and the clinical findings of CCA.

SUBMITTER: Liu W 

PROVIDER: S-EPMC4359973 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly.

Liu Wei W   Zhao Ning N   Li Xue-Fu XF   Wang Hong H   Sui Yu Y   Lu Yong-Ping YP   Feng Wen-Hua WH   Ma Chao C   Han Wei-Tian WT   Jiang Miao M  

FEBS open bio 20150305


Congenital contractural arachnodactyly (CCA, OMIM: 121050) is an autosomal dominant condition that shares skeletal features with Marfan syndrome (MFS, OMIM: 154700), including contractures, arachnodactyly, dolichostenomelia, scoliosis, crumpled ears and pectus deformities but excluding the ocular and cardiovascular complications that characterize MFS. These two similar syndromes result from mutations in two genes belonging to the fibrillin family, FBN1 and FBN2, respectively. We successfully ide  ...[more]

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