You Yi, Li Shan, Yang Bo, Zhao Xiuli
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;
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Aug 10;36(8):757-760. doi: 10.3760/cma.j.issn.1003-9406.2019.08.001.
To identify pathogenic variations of EXT1 and EXT2 genes in two Chinese pedigrees affected with hereditary multiple exostosis (HME).
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.
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.
Two heterozygous pathogenic variations underlying HME have been identified. The result has facilitated genetic counseling and prenatal diagnosis for the affected pedigrees.
鉴定两个患有遗传性多发性骨软骨瘤（HME）的中国家系中EXT1和EXT2基因的致病变异。
采用酚氯仿法从外周血样本中提取基因组DNA。进行聚合酶链反应（PCR）和桑格测序以扩增EXT1和EXT2基因的外显子及其侧翼内含子区域。
DNA测序显示，家系1中EXT1基因第1外显子存在杂合错义变异c.812A>G（p.Tyr271Cys），家系2先证者的EXT1基因第6外显子存在杂合移码变异c.1431dup（p.Ser478Leufs*43）。这两种变异均与疾病表型共分离，这也与先前的报道一致。
已鉴定出两个导致HME的杂合致病变异。该结果有助于为受影响家系提供遗传咨询和产前诊断。
