Analysis of EXT1 gene mutation in hereditary multiple exostosis families

作者：Shen, Yang; Zhang, Lei; Xie, Feng^*

来源：International Journal of Clinical and Experimental Medicine, 2016, 9(5): 8118-8126.

• Hereditary multiple exostosis
• EXT1 gene mutation
• pathogenic mutation analysis

Objective: This study was to investigate the EXT1 gene mutation in 9 patients with hereditary multiple exostosis (HME) and their relatives, and evaluate the relationship between EXT1 gene mutation and clinical characteristics of HME. Methods: The medial record of HME children who received therapy in the Department of Orthopedics of Shanghai Children's Hospital between January 2009 and March 2012 and general information of their relatives were retrospectively reviewed. Blood was collected from these children and their relatives, and RT-PCR and direct sequencing were performed to measure the mutation of EXT1 gene at 11 exons. Bioinformatics analysis was employed to pathogenic risk of corresponding mutations and the correlation between EXT1 gene mutations and clinical characteristics of HME. Results: A total of 9 HME children and 15 relatives (including 9 relatives with HME) were included in the present study, and the median number of tumors was 11 among 18 patients. Seven base changes were identified in 11 exons of EXT1 gene: Exon2 c.1767A>T, Exon3 c.1838C>T, Exon4 c.1987G>A, c.1994G>A, c.2007T>A, Exon9 c.2534G>A and Exon11 c.3168G>A, of which p.Thr332Ser, p.Arg405Lys and p.Trp412Arg were new missense mutations. p.Trp412Arg was closely associated with HME (HumDiv=1.000 and HunVar=0.996). Conclusion: Our study showed a new mutation site of EXT1 gene might be related to the morbidity of HME.

• 出版日期2016
• 单位上海交通大学; 同济大学