[通过全外显子组测序鉴定一例患有缺指（趾）-外胚层发育不良-唇腭裂综合征流产胎儿中的Tp63基因变异]
[Identification of a Tp63 gene variant in an abortus with Ectrodactyly, Ectodermal dysplasia, Cleft lip/palate syndrome by whole-exome sequencing].
作者信息
Liu Yuefang, Cheng Longfei, Weng Xiaojing, Jin Xin, Yan Nannan, Wang Hui, Pan Qiong
机构信息
Department of Clinical Genetics, Huaian Maternal and Child Health Care Hospital, Huai'an, Jiangsu 223002, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Feb 10;37(2):139-141. doi: 10.3760/cma.j.issn.1003-9406.2020.02.009.
OBJECTIVE
To detect potential variant in a male fetus suspected for Ectrodactyly, Ectodermal dysplasia, Cleft lip/palate (EEC) syndrome.
METHODS
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.
RESULTS
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.
CONCLUSION
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.
目的
检测一名疑似患有缺指（趾）-外胚层发育不良-唇腭裂（EEC）综合征的男性胎儿中的潜在变异。
方法
采集胎儿及其父母的外周血样本以提取DNA。进行全外显子组测序以检测潜在变异。通过桑格测序验证疑似变异。
结果
发现该胎儿携带Tp63基因的杂合c.673C>T错义变异，已知该变异是手足裂畸形的病因。其父母均未发现相同变异。
结论
Tp63基因的杂合c.673C>T错义变异可能是该胎儿EEC综合征的病因。上述发现也扩展了该变异的表型谱。
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