title: 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.
authors.affiliation: Key Laboratory of Reproductive Health and Medical Genetics, National Health and Family Planning Commission, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Liu
authors.affiliation: Key Laboratory of Reproductive Health and Medical Genetics, National Health and Family Planning Commission, China.
authors.forename: Ning
authors.initials: N
authors.lastname: Zhao
authors.affiliation: Key Laboratory of Reproductive Health and Medical Genetics, National Health and Family Planning Commission, China.
authors.forename: Xue-Fu
authors.initials: XF
authors.lastname: Li
authors.affiliation: Key Laboratory of Reproductive Health and Medical Genetics, National Health and Family Planning Commission, China.
authors.forename: Hong
authors.initials: H
authors.lastname: Wang
authors.affiliation: Key Laboratory of Reproductive Health and Medical Genetics, National Health and Family Planning Commission, China.
authors.forename: Yu
authors.initials: Y
authors.lastname: Sui
authors.affiliation: Key Laboratory of Reproductive Health and Medical Genetics, National Health and Family Planning Commission, China.
authors.forename: Yong-Ping
authors.initials: YP
authors.lastname: Lu
authors.affiliation: Key Laboratory of Reproductive Health and Medical Genetics, National Health and Family Planning Commission, China.
authors.forename: Wen-Hua
authors.initials: WH
authors.lastname: Feng
authors.affiliation: Key Laboratory of Reproductive Health and Medical Genetics, National Health and Family Planning Commission, China.
authors.forename: Chao
authors.initials: C
authors.lastname: Ma
authors.affiliation: Key Laboratory of Reproductive Health and Medical Genetics, National Health and Family Planning Commission, China.
authors.forename: Wei-Tian
authors.initials: WT
authors.lastname: Han
authors.affiliation: Key Laboratory of Reproductive Health and Medical Genetics, National Health and Family Planning Commission, China.
authors.forename: Miao
authors.initials: M
authors.lastname: Jiang
keywords: CCA; Congenital contractural arachnodactyly; FBN2; Fibrillin2
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