Molecular genetics of the COL2A1-related disorders
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- 作者：Hao Deng ; 1 ; hdeng008@yahoo.com" class="auth_mail" title="E-mail the corresponding author ; Xiangjun Huang1 ; Lamei Yuan
- 关键词：COL2A1 ; the collagen type II alpha-1 gene ; OMIM ; Online Mendelian Inheritance in Man ; ACG2/HCG ; achondrogenesis type II/hypochondrogenesis ; PLSDT ; platyspondylic skeletal dysplasia ; Torrance type ; SPD ; spondyloperipheral dysplasia ; SEDC ; spondyloepiphyseal dysplasia congenita ; SEMDSTWK ; spondyloepimetaphyseal dysplasia ; Strudwick type ; STL1 ; Stickler syndrome type I ; DRRD ; dominantly inherited rhegmatogenous retinal detachment ; ANFH ; avascular necrosis of the femoral head ; LCPD ; Legg&ndash ; Calve
- 刊名：Mutation Research/Reviews in Mutation Research
- 出版年：2016
- 出版时间：April-June 2016
- 年：2016
- 卷：768
- 期：Complete
- 页码：1-13
- 全文大小：1128 K
文摘
Type II collagen, comprised of three identical alpha-1(II) chains, is the major collagen synthesized by chondrocytes, and is found in articular cartilage, vitreous humour, inner ear and nucleus pulposus. Mutations in the collagen type II alpha-1 gene (COL2A1) have been reported to be responsible for a series of abnormalities, known as type II collagenopathies. To date, 16 definite disorders, inherited in an autosomal dominant or recessive pattern, have been described to be associated with the COL2A1 mutations, and at least 405 mutations ranging from point mutations to complex rearrangements have been reported, though the underlying pathogenesis remains unclear. Significant clinical heterogeneity has been reported in COL2A1-associated type II collagenopathies. In this review, we highlight current knowledge of known mutations in the COL2A1 gene for these disorders, as well as genetic animal models related to the COL2A1 gene, which may help us understand the nature of complex phenotypes and underlying pathogenesis of these conditions.