文章基本信息

标题：NEW MUTATIONS IN EXT1 AND EXT2 IN CHINESE FAMILIES WITH HEREDITARY MULTIPLE EXOSTOSES
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作者：Yi Quan ; Yanru Huang ; Xianda Wei 等
期刊名称：Fresenius Environmental Bulletin
印刷版ISSN：1018-4619
出版年度：2018
卷号：27
期号：9
页码：6222-6228
语种：English
出版社：PSP Publishing
摘要：Hereditary multiple exostoses (HME) is a dominant disorder characterized by the presence of multiple exostoses at the end of long bones. Muta- tions in the EXT] and EXT2 genes are major causes of HME. In this study, we clinically characterized nine unrelated families with multiple exostoses. Sanger sequencing was used to analyze the muta- tion of the EXT] and EXT 2 genes. Three new muta- tions (e.794-802delTATTCAAGG and e.1049_1051delCTTinsAATCTGATTCC in EXT 1, c.799G>T in ext2) were identiﬁed in these families. Two of the new mutations were predicted to pro- duce truncated protein due to frameshiﬁ and non- sense mutations. These findings expand the muta- tion spectrum of EXT 1 and EXT 2 and may help us to understand the molecular basis of I-IME in order to facilitate genetic counseling.
关键词：EXT];EXT2;Hereditary multiple exostoses;Truncated protein