title: Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita.
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.
authors.affiliation: Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, China.
authors.forename: Xiangjun
authors.initials: X
authors.lastname: Huang
authors.affiliation: Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, China.
authors.forename: Xiong
authors.initials: X
authors.lastname: Deng
authors.affiliation: Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, China.
authors.forename: Hongbo
authors.initials: H
authors.lastname: Xu
authors.affiliation: Department of Orthopedics, the Third Xiangya Hospital, Central South University, Changsha, China.
authors.forename: Song
authors.initials: S
authors.lastname: Wu
authors.affiliation: Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, China.
authors.forename: Lamei
authors.initials: L
authors.lastname: Yuan
authors.affiliation: Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, China.
authors.forename: Zhijian
authors.initials: Z
authors.lastname: Yang
authors.affiliation: Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Yang
authors.affiliation: Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, China.
authors.forename: Hao
authors.initials: H
authors.lastname: Deng
mesh_terms: D000328:Adult; D044466:Asian People; D024043:Collagen Type II / Q000172:deficiency* / Q000235:genetics; D059472:Exome / Q000235:genetics; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D010009:Osteochondrodysplasias / Q000151:congenital* / Q000235:genetics; D010375:Pedigree; D055815:Young Adult
chemical_list: C499177:COL2A1 protein, human; D024043:Collagen Type II