A novel mutation in EXT2 gene in a Chinese family with hereditary multiple exostoses

作者：Liu, Shi Guo; Lu, De Guo; Liu, Zhong Qiang; Liu, Chang Ying; Zhang, An Ying; Li, Zhen Qian; Ma, Xu^*

来源：Genetic Testing, 2008, 12(3): 331-332.

DOI：10.1089/gte.2007.0124

Hereditary multiple exostoses (HME) is an autosomal-dominant disorder characterized by the presence of bony outgrowths on the long bones. In this report, we describe a Chinese family with HME. Linkage analysis and mutation detection were performed. Linkage with the EXT2 was established in this family. A novel mutation, EXT2 c239-244delG, was identified. Mutation analysis in a family with HME allows for genetic counseling and prenatal diagnosis.

• 出版日期2008-9
• 单位临沂市人民医院; 国家卫生计生委科学技术研究所; 中国医学科学院北京协和医院; 青岛大学