Identification of a novel EXT1 mutation in a pedigree affected with hereditary multiple exostosis.
10.3760/cma.j.issn.1003-9406.2018.01.021
- Author:
Guiyu LOU
1
;
Ke YANG
;
Litao QIN
;
Yuwei ZHANG
;
Hongdan WANG
;
Qiaofang HOU
;
Miao HE
;
Shixiu LIAO
Author Information
1. Institute of Medical Genetics of Henan Province, People's Hospital of Zhengzhou University, Henan Provincial People's Hospital, Zhengzhou, Henan 450003, China. Email: ychslshx@126.com.
- Publication Type:Journal Article
- From:
Chinese Journal of Medical Genetics
2018;35(1):91-95
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE To detect potential mutations of the EXT1 and EXT2 genes in a pedigree affected with hereditary multiple exostosis (HME). METHODS For a four-generation family with 7 affected individuals from 17 family members,genomic DNA was extracted from peripheral venous blood samples. All exons of the EXT1 and EXT2 genes were screened for potential mutation by PCR and Sanger sequencing. RESULTS A novel heterozygous frameshift mutation c.1202delT (p.I401Tfs*2)was found in exon 4 of the EXT1 gene in the proband and the other 6 affected individuals. The same mutation was not detected among the healthy members from the family. The mutation has given rise a truncated EXT1 protein with loss of 345 amino acids. CONCLUSION A novel frameshift mutation of the EXT1 gene has been identified in a pedigree affected with HME, which has enriched the mutational spectrum of the EXT1 gene and may facilitate genetic counseling and prenatal diagnosis for the family.
