Identification of one novel mutation in the C-propeptide of COL2A1 in a Chinese family with spondyloperipheral dysplasia

被引：8

作者：

Zhang, Zeng ^{[1
,2
]}

Zhao, Shi-Chang ^{[1
]}

He, Jin-Wei ^{[2
]}

Fu, Wen-Zhen ^{[2
]}

Zhang, Chang-Qing ^{[1
]}

Zhang, Zhen-Lin ^{[2
]}

机构：

[1] Shanghai Jiao Tong Univ, Peoples Hosp 6, Dept Orthoped Surg, Shanghai 200233, Peoples R China

[2] Shanghai Jiao Tong Univ, Peoples Hosp 6, Dept Osteoporosis & Bone Dis, Metab Bone Dis & Genet Res Unit, Shanghai 200233, Peoples R China

来源：

GENE | 2013年 / 522卷 / 01期

基金：

中国国家自然科学基金;

关键词：

C-propeptide; Spondyloperipheral dysplasia; Collage; Type II collagenopathies; II GENE COL2A1; SKELETAL DYSPLASIA; COLLAGEN GENE; EXPRESSION; SPECTRUM;

D O I：

10.1016/j.gene.2013.03.083

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. (C) 2013 Elsevier B.V. All rights reserved.

引用

页码：107 / 110

页数：4

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