Whole exome sequencing identifies a novel missense FBN2 mutation co-segregating in a four-generation Chinese family with congenital contractural arachnodactyly. Issue 1 (December 2016)

• Record Type: Journal Article
• Authors: Guo, Xingping; Song, Chunying; Shi, Yaping; Li, Hongxia; Meng, Weijing; Yuan, Qinzhao; Xue, Jinjie; Xie, Jun; Liang, Yunxia; Yuan, Yanan; Yu, Baofeng; Wang, Huaixiu; Chen, Yun; Qi, Lixin; Li, Xinmin
• Is Part Of: BMC medical genetics. Volume 17:Issue 1(2016)
• Page Start: 1
• Page End: 5
• Publication Date: 2016-12
• Subjects: Whole exome sequencing -- FBN2 -- Mutation -- Congenital contractural arachnodactyly; Medical genetics -- Periodicals; 616.04205
• DOI: 10.1186/s12881-016-0355-6
• Languages: English
• ISSNs: 1471-2350

Abstract

Abstract Background Congenital contractural arachnodactyly (CCA) is an autosomal dominant rare genetic disease, estimated to be less than 1 in 10, 000 worldwide. People with this condition often have permanently bent joints (contractures), like bent fingers and toes (camptodactyly). Case presentation In this study, we investigated the genetic aetiology of CCA in a four-generation Chinese family. The blood samples were collected from 22 living members of the family in the Yangquan County, Shanxi Province, China. Of those, eight individuals across 3 generations have CCA. Whole exome sequencing (WES) identified a missense mutation involving a T-to-G transition at position 3229 (c.3229 T > G) in exon 25 of theFBN2 gene, resulting in a Cys 1077 to Gly change (p.C1077G). This previously unreported mutation was found in all 8 affected individuals, but absent in 14 unaffected family members. SIFT/PolyPhen prediction and protein conservation analysis suggest that this novel mutation is pathogenic. Our study extended causative mutation spectrum ofFBN2 gene in CCA patients. Conclusions This study has identified a novel missense mutation inFBN2 gene (p.C1077G) resulting in CCA in a family of China.