先证者
桑格测序
遗传学
外显子组测序
生物
基因
DNA测序
基因组DNA
外显子
复合杂合度
发育不良
外显子组
突变
解剖
作者
Jian Ma,Yong Liu,Kaihui Zhang,Yuqiang Lyu,Min Gao,Dong Wang,Zhongtao Gai,Yi Liu
出处
期刊:PubMed
日期:2020-05-10
卷期号:37 (5): 539-542
被引量:1
标识
DOI:10.3760/cma.j.issn.1003-9406.2020.05.011
摘要
To explore the genetic basis of a proband with distinctive facial features, global developmental delay, seizures and hypoplasia of corpus callosum through next generation sequencing (NGS).Genomic DNA was extracted from peripheral blood samples of the proband and his family members. Whole exome and flanking sequences were screened by NGS. Suspected variants were verified by Sanger sequencing.The proband was found to carry a heterozygous c.2824G>T (p.G942X) variant of the ZEB2 gene, which was verified by Sanger sequencing to be a de novo variant.The heterozygous c.2824G>T (p.G942X) variant of the ZEB2 gene probably underlies the Mowat-Wilson syndrome in the proband.
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