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首页> 外文期刊>Human mutation >Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV.
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Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV.

机译：I-IV型成骨不全症患者中的33个新的COL1A1和COL1A2突变。

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摘要

Osteogenesis imperfecta (OI) is a heritable disease of bone characterized by low bone mass and bone fragility. Six different types of OI have been described to date, based on clinical phenotype and histological findings. The genetic defect in many patients with OI types I-IV is due to mutations in the genes encoding type I collagen, while patients with OI types V and VI show no evidence of mutations in the COL1A1/COL1A2 genes. Here we report thirty-three novel mutations in patients with types I-IV OI. Sixteen mutations were in COL1A1 and seventeen were in COL1A2. Most mutations resulted in substitutions for glycine: one of these, a doublet GG>CC transversion, created a unique Gly-->Pro missense mutation in the triple helical domain of COL1A2. Two rare triple helical Gly-->Glu substitutions in COL1A2 are also described. In addition, there were six single-base deletion mutations resulting in frameshifts, seven splice junction mutations, and a 9-bp triple helix insertion associated with a severe (OI II) phenotype. The variety of mutations described in the COL1A1/COL1A2 genes giving rise to an OI phenotype is in accordance with the clinical heterogeneity of the disease. Hum Mutat 17:434, 2001. Copyright 2001 Wiley-Liss, Inc.
机译：成骨不全症（OI）是一种遗传性骨疾病，其特征是骨量低和骨脆。迄今为止，已根据临床表型和组织学发现描述了六种不同类型的OI。许多I-IV型OI患者的遗传缺陷是由于编码I型胶原的基因突变引起的，而OI型V和VI型患者则未显示出COL1A1 / COL1A2基因突变的证据。在这里，我们报告I-I​​V型OI患者的33个新突变。在COL1A1中有16个突变，在COL1A2中有17个突变。大多数突变导致了甘氨酸的替代：其中之一，双峰GG> CC转化，在COL1A2的三重螺旋结构域中产生了一个独特的Gly-> Promissense突变。还描述了COL1A2中两个罕见的三重螺旋Gly-> Glu取代。此外，有6个单碱基缺失突变导致移码，7个剪接连接突变和9bp的三重螺旋插入，与严重的（OI II）表型相关。产生OI表型的COL1A1 / COL1A2基因中描述的各种突变与疾病的临床异质性相符。 Hum Mutat 17：434，2001。版权所有2001 Wiley-Liss，Inc.。

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