Identification of Four Novel EXT1 and EXT2 Mutations in Five Chinese Pedigrees with Hereditary Multiple Exostoses

Yuchan Li; Dengbin Wang; Wenbin WangJian WangHuaiyuan LiJing WangXuefeng WangQihua Fu

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Identification of Four Novel EXT1 and EXT2 Mutations in Five Chinese Pedigrees with Hereditary Multiple Exostoses

机译：四个小说EXT1和EXT2的识别5中国谱系与突变遗传性多发性外生骨疣

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Hereditary multiple exostoses (HME) is an autosomal dominant skeletal disorder most frequently caused by the EXT1 and EXT2 gene mutations resulting in reduction or absence of heparan sulfate (HS) in the exostotic cartilage cap. In this study, we investigated the molecular defects in five Chinese pedigrees with HME by direct sequencing analysis. Two novel EXT1 gene mutations and two novel EXT2 gene mutations were identified in two and three pedigrees, respectively. Of the four mutations identified, the c.651-664delinsTTT and c.680delG mutations in the exon 1 of EXT1 gene would cause frameshift (K218fs and R227fs) and introduce premature stop codon at amino acid site 220 and 251, respectively. The two missense mutations of c.398T > G in exon 2 and c.1016G > A in exon 6 of EXT2 gene result in the Leu133Arg and Cys339Tyr substitution, respectively. As HME is caused by defects in HS synthesis that is a complex process and not fully understood, these naturally occurring EXT mutations may provide important clues to future studies elucidating how EXT proteins contribute to HS biosynthesis.

机译：遗传性多发性外生骨疣(HME)是一个最常染色体显性骨骼疾病经常EXT1和EXT2基因造成的突变导致减少或缺乏硫酸乙酰肝素(HS) exostotic软骨帽子。在这项研究中,我们调查了分子5中国谱系和HME缺陷直接测序分析。突变和两个新的EXT2基因突变在2和3的起源,分别。c.651 - 664 delinsttt c.680delG突变EXT1基因的外显子1会造成移码(K218fs和R227fs)并介绍过早停止在氨基酸密码子站点220 - 251年,分别。c.398T >外显子2 G和c.1016G >外显子6EXT2基因导致Leu133Arg和Cys339Tyr分别替换。缺陷商品合成是一个复杂的过程而不是完全理解,这些自然EXT发生突变可能提供重要的未来的研究阐明如何EXT的线索蛋白质有助于HS生物合成。

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《Genetic testing and molecular biomarkers》 |2009年第6期|825-830|共6页
作者
Yuchan Li; Dengbin Wang; Wenbin WangJian WangHuaiyuan LiJing WangXuefeng WangQihua Fu;
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作者单位

Department of Pediatric Orthopedics, Shanghai Children's Medical Center,Shanghai Jiaotong University School of Medicine, Shanghai, People's Republic of China;

Department of Biochemistry, University of Washington, Seattle, Washington;

Department of Radiology, Ruijin Hospital,Shanghai Jiaotong University School of Medicine, Shanghai, People's Republic of ChinaDepartment of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, People's Republic of ChinaDepartment of Clinical Transfusion, Ruijin Hospital;

Shanghai Jiaotong University School of Medicine, Shanghai, People's Republic of China;

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关键词
EXT1 gene; Pedigree; MutationEXT2 geneNonsense Codonhereditary multiple exostosisMissense Mutation;

机译：EXT1基因;谱系;MutationEXT2 geneNonsenseCodonhereditary多个exostosisMissense突变;

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机译：a splice-site mutation leads to haploinsufficiency of EXT2 mRNa for a dominant trait in a large family with multiple osteochondromas.

Identification of Four Novel EXT1 and EXT2 Mutations in Five Chinese Pedigrees with Hereditary Multiple Exostoses

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