title: Identification of one novel mutation in the C-propeptide of COL2A1 in a Chinese family with spondyloperipheral dysplasia.
abstract: Spondyloperipheral dysplasia (SPD; OMIM 271700) is an autosomal dominant connective tissue disorder characterized by vertebral body abnormalities (platyspondyly, end-plate indentations), hip dysplasia and brachydactyly type E. Here, we identified a novel truncating mutation (p.Lys1444AsnfsX27) in the C-propeptide of type II collagen in an affected Chinese individual with SPD. Our findings will provide clues to the phenotype-genotype relations and may assist not only in the clinical diagnosis of SPD but also in the interpretation of genetic information used for prenatal diagnosis and genetic counseling.
authors.affiliation: Department of Orthopedic Surgery, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, 600 Yi-Shan Rd., PR China.
authors.forename: Zeng
authors.initials: Z
authors.lastname: Zhang
authors.forename: Shi-Chang
authors.initials: SC
authors.lastname: Zhao
authors.forename: Jin-Wei
authors.initials: JW
authors.lastname: He
authors.forename: Wen-Zhen
authors.initials: WZ
authors.lastname: Fu
authors.forename: Chang-Qing
authors.initials: CQ
authors.lastname: Zhang
authors.forename: Zhen-Lin
authors.initials: ZL
authors.lastname: Zhang
mesh_terms: D000328:Adult; D044466:Asian People; D024043:Collagen Type II / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D009154:Mutation; D010009:Osteochondrodysplasias / Q000235:genetics*
chemical_list: C499177:COL2A1 protein, human; D024043:Collagen Type II