Analysis of a case with Mowat-Wilson syndrome due to nonsense variant of ZEB2 gene.
10.3760/cma.j.cn511374-20210510-00393
- Author:
Mingcong SHE
1
;
Zhenhua ZHAO
;
Panlai SHI
;
Shanshan GAO
;
Xiangdong KONG
Author Information
1. Genetic and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. kongxd@263.net.
- Publication Type:Journal Article
- MeSH:
Facies;
Female;
Hirschsprung Disease;
Humans;
Hypopigmentation;
Intellectual Disability/genetics*;
Microcephaly;
Pregnancy;
Zinc Finger E-box Binding Homeobox 2/genetics*
- From:
Chinese Journal of Medical Genetics
2022;39(8):889-892
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a girl with distinctive facial features, epilepsy, intellectual disability, chronic constipation and hypopigmentation of neck and upper extremities.
METHODS:Whole exome sequencing was carried out for the proband. Candidate variant was verified by Sanger sequencing.
RESULTS:The proband was found to harbor a heterozygous nonsense c.586G>T (p.Glu196*) variant of the ZEB2 gene, which was unreported previously. The variant was not detected in either parent.
CONCLUSION:The ZEB2 gene c.586G>T (p.Glu196*) variant probably underlay the Mowat-Wilson syndrome in this patient. Hypopigmentation in the neck and upper extremities may be related to Mowat-Wilson syndrome. Prenatal diagnosis was recommended for subsequent pregnancies.
