直肠
外胚层发育不良
外显子组测序
桑格测序
错义突变
遗传学
生物
胎儿
外显子组
基因
表型
DNA测序
怀孕
作者
Yuefang Liu,Longfei Cheng,Xiaojing Weng,Xin Jin,Nannan Yan,Hui Wang,Qiong Pan
出处
期刊:PubMed
日期:2020-02-10
卷期号:37 (2): 139-141
被引量:1
标识
DOI:10.3760/cma.j.issn.1003-9406.2020.02.009
摘要
To detect potential variant in a male fetus suspected for Ectrodactyly, Ectodermal dysplasia, Cleft lip/palate (EEC) syndrome.Peripheral blood samples of the fetus and his parents were collected for the extraction of DNA. Whole-exome sequencing was carried out to detect potential variants. Suspected variants were verified by Sanger sequencing.The fetus was found to carry a heterozygous c.673C>T missense variant of the Tp63 gene, which was known to underlie split-hand/split-foot malformation. The same variant was not found in either parents.The heterozygous c.673C>T missense variant of the Tp63 gene probably underlies the EEC syndrome in the fetus. Above finding also expanded the phenotypic spectrum for this variant.
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