title: Molecular genetics of the COL2A1-related disorders.
abstract: 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.
authors.affiliation: Center for Experimental Medicine and Department of Neurology, the Third Xiangya Hospital, Central South University, Changsha 410013, China. Electronic address: hdeng008@yahoo.com.
authors.forename: Hao
authors.initials: H
authors.lastname: Deng
authors.affiliation: Center for Experimental Medicine and Department of Neurology, the Third Xiangya Hospital, Central South University, Changsha 410013, China.
authors.forename: Xiangjun
authors.initials: X
authors.lastname: Huang
authors.affiliation: Center for Experimental Medicine and Department of Neurology, the Third Xiangya Hospital, Central South University, Changsha 410013, China.
authors.forename: Lamei
authors.initials: L
authors.lastname: Yuan
mesh_terms: D000818:Animals; D024043:Collagen Type II / Q000235:genetics* / Q000378:metabolism; D004195:Disease Models, Animal; D005799:Genes, Dominant; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation; D010641:Phenotype
chemical_list: C499177:COL2A1 protein, human; D024043:Collagen Type II
keywords: Gene mutation; Genetics; Heterogeneity; The COL2A1 gene; Type II collagenopathies