Heterozygous C-propeptide mutations in COL1A1 : osteogenesis imperfect a type IIC and dense bone variant
Heterozygous C-propeptide mutations in COL1A1 : osteogenesis imperfect a type IIC and dense bone variant
复制标题
COL1A1 杂合 C 前肽突变：成骨不完善 a 型 IIC 和致密骨变异
DOI：
10.1002/ajmg.a.34152
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发表时间：
2011
期刊：
影响因子：
2
通讯作者：
Hasegawa T
中科院分区：
文献类型：
--
作者：
Takagi M;Hori N;Chinen Y;Kurosawa K;Tanaka Y;Oku K;Sakata H;Fukuzawa R;Nishimura G;Spranger J;Hasegawa T
IIC 型成骨不全症 (OI IIC) 是致死性 OI 的一种罕见变异，被认为是常染色体隐性遗传特征。 OI IIC 中的扭曲、细长的长骨具有致密的干骺端边缘和正常的椎体，而 OI IIA 中的皱缩、厚的长骨和多处椎体压缩性骨折形成鲜明对比。在这里，我们报告了两名患有典型 OI IIC 的散发患者和一对兄弟姐妹，他们具有 OI IIC 的特征，但管状骨变形较少（OI 致密骨变体）。一名 OI IIC 患者及其同胞在 COL1A1 的 C 前肽区域存在新的杂合突变，而另一名明确的 OI IIC 患者在该区域没有突变。两个散发病例的组织学检查显示，干骺端有一个广泛的、相互连接的软骨小梁网络，具有薄的骨缝。这些变化与其他致命或严重成骨不全病例中发现的狭窄和短的干骺端小梁不同。我们的经验揭示了 OI IIC 的遗传学和病因学及其表型谱。 © 2011 Wiley-Liss, Inc.
Osteogenesis imperfecta type IIC (OI IIC) is a rare variant of lethal OI that has been considered to be an autosomal recessive trait. Twisted, slender long bones with dense metaphyseal margins and normal vertebral bodies in OI IIC contrast with crumpled, thick long bones and multiple vertebral compression fractures in OI IIA. Here, we report on two sporadic patients with classical OI IIC and a pair of siblings, with features of OI IIC but less distortion of the tubular bones (OI dense bone variant). One case with OI IIC and the sibs had novel heterozygous mutations in the C‐propeptide region ofCOL1A1, while the second patient with clear‐cut OI IIC had no mutation in this region. Histological examination in the two sporadic cases showed a network of broad, interconnected cartilaginous trabeculae with thin osseous seams in the metaphyses. These changes differed from the narrow and short metaphyseal trabeculae found in other lethal or severe cases of OI. Our experience sheds light on the genetics and etiology of OI IIC and on its phenotypic spectrum. © 2011 Wiley‐Liss, Inc.