NEW MUTATIONS IN EXT1 AND EXT2 IN CHINESE FAMILIES WITH HEREDITARY MULTIPLE EXOSTOSES

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 identi?ed in these families. Two of the new mutations were predicted to pro- duce truncated protein due to frameshi? 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.