Clinical characteristics and genetic analysis of 3 children with Mowat-Wilson syndrome.
10.3760/cma.j.cn511374-20210829-00703
- Author:
Taocheng ZHOU
1
;
Yuchen WANG
;
Dong LIANG
;
Lulu CHEN
;
Fuling YE
;
Hongyao CAO
;
Guanglei TONG
Author Information
1. Department of Traditional Chinese Medicine, Anhui Provincial Children's Hospital, Hefei, Anhui 230051, China. tong704@sina.com.
- Publication Type:Journal Article
- MeSH:
Child;
DNA Copy Number Variations;
Facies;
Glycosyltransferases/genetics*;
Hirschsprung Disease;
Humans;
Intellectual Disability/genetics*;
Microcephaly/genetics*
- From:
Chinese Journal of Medical Genetics
2022;39(9):944-948
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis of three children with unexplained mental retardation/developmental delay.
METHODS:Peripheral venous blood samples were collected for routine G-banding karyotyping analysis and chromosomal microarray analysis (CMA). Whole exome sequencing (WES) was also carried out for patient 3.
RESULTS:The karyotypes of the 3 children were normal. The result of CMA analysis of patient 1 was arr[GRCh37]: 2q22/3(145 128 071-145 159 029)×1, with a 31 kb deletion, which was predicted to be a pathogenic copy number variation. The deletion has involved exons 8 to 10 of the ZEB2 gene. Patient 2 was arr[hg19]:2q22.3 (145 071 457-146 881 759)×1, with a 1.81 Mb deletion involving the ZEB2 and GTDC1 genes. Patient 3 was arr[GRCh37]: 9p23p23(11 698 261-12 106 261)×1, with a 408 kb deletion containing no disease-associated gene. WES has identified a c.2102C>A (p.Ser701*) variant in exon 8 of the ZEB2 gene, which was included in ClinVar database and rated as pathogenic, and verified by Sanger sequencing as a de novo variant.
CONCLUSION:For the substantial clinical and genetic heterogeneity of Mowat-Wilson-syndrome, CMA and WES are helpful to identify the etiology of children with developmental delay/mental retardation of unknown causes, particularly those with peculiar facial features and multiple congenital malformations.
