Identification of a Tp63 gene variant in an abortus with Ectrodactyly, Ectodermal dysplasia, Cleft lip/palate syndrome by whole-exome sequencing
10.3760/cma.j.issn.1003-9406.2020.02.009
- VernacularTitle:全外显子测序检测一例Tp63基因变异导致的缺指(趾)-外胚层发育不良-唇腭裂综合征
- Author:
Yuefang LIU
1
;
Longfei CHENG
;
Xiaojing WENG
;
Xin JIN
;
Nannan YAN
;
Hui WANG
;
Qiong PAN
Author Information
1. 扬州大学医学院附属淮安市妇幼保健院医学遗传与产前筛查科 223002
- Keywords:
Ectrodactyly,Ectodermal dysplasia,Cleft lip/palate syndrome;
Tp63 gene;
Missense variant
- From:
Chinese Journal of Medical Genetics
2020;37(2):139-141
- CountryChina
- Language:Chinese
-
Abstract:
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 splithand/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.
