Open AccessThe identification of a novel frameshift insertion mutation in the EXT1 gene in a Chinese family with hereditary multiple exostoses
Author(s) -
Liu Wanlu,
Shi Xinwei,
Li Yuqi,
Qiao Fuyuan,
Wu Yuanyuan
Publication year - 2022
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.6298
Subject(s) - frameshift mutation , sanger sequencing , proband , exon , genetics , mutation , exome sequencing , gene , hereditary multiple exostoses , medicine , mutation testing , biology
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.