Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita |
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| Authors: | Xiangjun Huang Xiong Deng Hongbo Xu Song Wu Lamei Yuan Zhijian Yang Yan Yang Hao Deng |
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| Institution: | 1. Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, China.; 2. Department of Orthopedics, the Third Xiangya Hospital, Central South University, Changsha, China.; The University of Hong Kong, HONG KONG, |
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| Abstract: | Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant chondrodysplasia characterized by disproportionate short-trunk dwarfism, skeletal and vertebral deformities. Exome sequencing and Sanger sequencing were performed in a Chinese Han family with typical SEDC, and a novel mutation, c.620G>A (p.Gly207Glu), in the collagen type II alpha-1 gene (COL2A1) was identified. The mutation may impair protein stability, and lead to dysfunction of type II collagen. Family-based study suggested that the mutation is a de novo mutation. Our study extends the mutation spectrum of SEDC and confirms genotype-phenotype relationship between mutations at glycine in the triple helix of the alpha-1(II) chains of the COL2A1 and clinical findings of SEDC, which may be helpful in the genetic counseling of patients with SEDC. |
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