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.

中文翻译：

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与COL2A1相关疾病的分子遗传学。

II型胶原蛋白由三个相同的alpha-1（II）链组成，是软骨细胞合成的主要胶原蛋白，存在于关节软骨，玻璃体幽默，内耳和髓核中。据报道，Ⅱ型胶原蛋白α-1基因（COL2A1）的突变是导致一系列异常的原因，被称为Ⅱ型胶原蛋白病。迄今为止，已经描述了以常染色体显性或隐性模式遗传的16种确定性疾病与COL2A1突变相关，并且据报道至少有405种突变，从点突变到复杂的重排，尽管其潜在的发病机理仍不清楚。在与COL2A1相关的II型胶原病中已报道了显着的临床异质性。在这篇评论中，