To identify the pathogenic gene variation in a Chinese family with Hereditary Multiple Exostoses (HME). By examining blood-sourced DNA and clinical manifestations of the proband and his family members, the whole exome sequencing (WES) and Sanger sequencing were used to detect possibly pathogenic mutations. A novel heterozygous mutation (c.325dup) was identified in exon 1 of the exostosin 1 (EXT1) gene from the proband and the affected family members. And we found this mutation was absent in all the unaffected family members. This c.325dup mutation is in the exon 1 domain of the EXT1 gene and the change of p.C109Lfs*80 cause the early termination of protein translation. The identification of the novel frameshift insertion mutation (c.325dup) expands the mutation spectrum of HME, which provides new evidence for HME diagnosis.
基金：
National Key Research and Development Program of China [2018YFC1002904]
第一作者单位：[1]Huazhong Univ Sci & Technol, Tongji Hosp, Tongji Med Coll, Dept Obstet & Gynecol, 1095 Jiefang Ave, Wuhan 430030, Peoples R China
通讯作者：
推荐引用方式(GB/T 7714)：
Liu Wanlu,Shi Xinwei,Li Yuqi,et al.The identification of a novel frameshift insertion mutation in the EXT1 gene in a Chinese family with hereditary multiple exostoses[J].CLINICAL CASE REPORTS.2022,10(9):doi:10.1002/ccr3.6298.
APA：
Liu, Wanlu,Shi, Xinwei,Li, Yuqi,Qiao, Fuyuan&Wu, Yuanyuan.(2022).The identification of a novel frameshift insertion mutation in the EXT1 gene in a Chinese family with hereditary multiple exostoses.CLINICAL CASE REPORTS,10,(9)
MLA：
Liu, Wanlu,et al."The identification of a novel frameshift insertion mutation in the EXT1 gene in a Chinese family with hereditary multiple exostoses".CLINICAL CASE REPORTS 10..9(2022)
