X型胶原蛋白基因（COL10A1）突变会导致脊椎干骺端发育不良。
Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia.
作者信息
Ikegawa S, Nishimura G, Nagai T, Hasegawa T, Ohashi H, Nakamura Y
机构信息
Laboratory of Genome Medicine, Institute of Medical Science, University of Tokyo, Japan.
出版信息
Am J Hum Genet. 1998 Dec;63(6):1659-62. doi: 10.1086/302158.
Abstract
Spondylometaphyseal dysplasia (SMD) comprises a heterogeneous group of heritable skeletal dysplasias characterized by modifications of the vertebral bodies of the spine and metaphyses of the tubular bones. The genetic etiology of SMD is currently unknown; however, the type X collagen gene (COL10A1) is considered an excellent candidate, for two reasons: first, Schmid metaphyseal chondrodysplasia, a condition known to result from COL10A1 mutations, shows a significant phenotypic overlap with SMD; and, second, transgenic mice carrying deletions in type X collagen show SMD phenotypes. Hence, we examined the entire coding region of COL10A1 by direct sequencing of DNA from five unrelated patients with SMD and found a heterozygous missense mutation (Gly595Glu) cosegregating with the disease phenotype in one SMD family. This initial documented identification of a mutation in SMD expands our knowledge concerning the range of the pathological phenotypes that can be produced by aberrations of type X collagen (type X collagenopathy).
摘要
脊椎干骺端发育不良（SMD）是一组遗传性骨骼发育不良的异质性疾病，其特征是脊柱椎体和管状骨干骺端发生改变。SMD的遗传病因目前尚不清楚；然而，X型胶原基因（COL10A1）被认为是一个很好的候选基因，原因有两个：第一，已知由COL10A1突变导致的施密德干骺端软骨发育不良与SMD有显著的表型重叠；第二，携带X型胶原缺失的转基因小鼠表现出SMD表型。因此，我们通过对五名无关的SMD患者的DNA进行直接测序，检测了COL10A1的整个编码区，发现一个杂合错义突变（Gly595Glu）在一个SMD家族中与疾病表型共分离。首次记录到的SMD突变扩展了我们对X型胶原异常（X型胶原病）可能产生的病理表型范围的认识。
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Am J Hum Genet. 1998 Dec;63(6):1659-62. doi: 10.1086/302158.
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本文引用的文献
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Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels.原纤维胶原蛋白（I型、II型、III型和XI型）、原纤维相关胶原蛋白（IX型）和网络形成胶原蛋白（X型）的突变会引发一系列影响骨骼、软骨和血管的疾病。
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Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia.施密德干骺端软骨发育不良患者X型胶原蛋白基因（COL10A1）N端球状结构域的突变。
Hum Mutat. 1997;9(2):131-5. doi: 10.1002/(SICI)1098-1004(1997)9:2<131::AID-HUMU5>3.0.CO;2-C.
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Immunohistochemical localization of short chain cartilage collagen (type X) in avian tissues.短链软骨胶原蛋白（X型）在禽类组织中的免疫组织化学定位。
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