Analysis of ZEB2 gene variation in two patients with Mowat-Wilson syndrome.
10.3760/cma.j.cn511374-20200715-00516
- Author:
Xuanlan CAO
1
;
Xiaoli DENG
;
Zhuo ZOU
;
Chunming LIU
;
Yiwu ZHAO
;
Jian REN
;
Yun LIU
Author Information
1. Yunnan Key Laboratory of Children's Major Disease Research, Kunming Children's Hospital, Kunming, Yunnan 650034, China. liuyun@etyy.cn.
- Publication Type:Journal Article
- MeSH:
DNA Copy Number Variations;
Facies;
Hirschsprung Disease;
Humans;
Intellectual Disability/genetics*;
Microcephaly/genetics*;
Zinc Finger E-box Binding Homeobox 2/genetics*
- From:
Chinese Journal of Medical Genetics
2022;39(2):152-156
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To identify pathogenic variants in two patients with suspected for Mowat-Wilson syndrome (MWS).
METHODS:Genomic DNA was extracted from peripheral blood samples of the patients and his family members, and gene variants were analysis by Trio-whole exome sequences and copy number variation sequencing.
RESULTS:Patient 1 was found to carried a de novo heterozygous c.2769C>A (p.Y923*) nonsense variant of ZEB2 gene. The variant was not found in his healthy parents and sister. Patient 2 carried a de novo heterozygous frameshift variant of the ZEB2 gene, namely c.315delC (p.A105Afs*3), which has not been previously reported. Both variants were predicted to be pathogenic and can lead to premature occurrence of stop codons.
CONCLUSION:The heterozygous c.2769C>A (p.Y923*) and c.315delC (p.A105Afs*3) variants of the ZEB2 gene probably underlay the pathogenesis in the two patients. Gene testing has facilitated confirmation of the diagnosis and genetic counselling.
