Analysis of a case with Mowat-Wilson syndrome caused by ZEB2 gene variant.
10.3760/cma.j.issn.1003-9406.2020.05.011
- Author:
Jian MA
1
;
Yong LIU
;
Kaihui ZHANG
;
Yuqiang LYU
;
Min GAO
;
Dong WANG
;
Zhongtao GAI
;
Yi LIU
Author Information
1. Jinan Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China. liuyi-ly@126.com.
- Publication Type:Case Reports
- MeSH:
Facies;
Genetic Variation;
Heterozygote;
Hirschsprung Disease;
genetics;
Humans;
Intellectual Disability;
genetics;
Microcephaly;
genetics;
Whole Exome Sequencing;
Zinc Finger E-box Binding Homeobox 2;
genetics
- From:
Chinese Journal of Medical Genetics
2020;37(5):539-542
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE: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).
METHODS: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.
RESULTS: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.
CONCLUSION:The heterozygous c.2824G>T (p.G942X) variant of the ZEB2 gene probably underlies the Mowat-Wilson syndrome in the proband.
