Identification of pathogenic variations in two Chinese pedigrees affected with hereditary multiple exostosis.
10.3760/cma.j.issn.1003-9406.2019.08.001
- Author:
Yi YOU
1
;
Shan LI
;
Bo YANG
;
Xiuli ZHAO
Author Information
1. Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences - School of Basic Medicine, Peking Union Medical College, Beijing 100005, China. ybsurg @sina.com; xiulizhao@ibms.pumc.edu.cn.
- Publication Type:Journal Article
- MeSH:
Asian Continental Ancestry Group;
Base Sequence;
DNA Mutational Analysis;
Exostoses, Multiple Hereditary;
genetics;
pathology;
Frameshift Mutation;
Humans;
Mutation, Missense;
N-Acetylglucosaminyltransferases;
genetics;
Pedigree
- From:
Chinese Journal of Medical Genetics
2019;36(8):757-760
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To identify pathogenic variations of EXT1 and EXT2 genes in two Chinese pedigrees affected with hereditary multiple exostosis (HME).
METHODS:Genomic DNA was extracted from peripheral blood samples using a phenol-chloroform method. PCR and Sanger sequencing was conducted to amplify the exons and the flanking intronic regions of the EXT1 and EXT2 genes.
RESULTS:DNA sequencing has revealed a heterozygous missense variation c.812A>G (p.Tyr271Cys) in the exon 1 of EXT1 in pedigree 1, and a heterozygous frameshift variation c.1431dup (p.Ser478Leufs*43) in the exon 6 of EXT1 in the proband from pedigree 2. Both variations have co-segregated with the disease phenotype, which was also consistent with previous report.
CONCLUSION:Two heterozygous pathogenic variations underlying HME have been identified. The result has facilitated genetic counseling and prenatal diagnosis for the affected pedigrees.
