Clinical and genetic analysis of a patient with Mowat-Wilson syndrome.
10.3760/cma.j.cn511374-20200330-00217
- VernacularTitle:一例Mowat-Wilson综合征患儿的临床和遗传学分析
- Author:
Pingli ZHANG
1
,
2
;
Yanqi HOU
;
Peiyuan LIAO
;
Xiang YUAN
;
Na LI
;
Qikun HUANG
;
Jing YANG
Author Information
1. Department of Pediatrics, Qilu Hospital, Shandong University, Jinan, Shandong 266035, China. dryangyang@
2. com.
- Publication Type:Journal Article
- MeSH:
Child;
Facies;
Hirschsprung Disease/genetics*;
Humans;
Infant;
Intellectual Disability/genetics*;
Male;
Microcephaly/genetics*;
Mutation
- From:
Chinese Journal of Medical Genetics
2021;38(5):465-468
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To summarize the clinical phenotype and genotype of a Chinese child affected with Mowat-Wilson syndrome (MWS).
METHODS:Clinical data of the patient were collected. The patient was analyzed by whole-exome sequencing (WES) as well as Sanger sequencing.
RESULTS:The patient was a male infant with recurrent fever and slow growth. He also had characteristic facies, recurrent spasm, and growth retardation. WES revealed that he has carried a heterozygous nonsense c.2609C>G (p.Ser870X) variant of the ZEB2 gene (30% mosaicism). Based on the American College of Medical Genetics and Genomics standards and guidelines, the variant was predicted to be pathogenic (PVS1+PS1+PS2+PM2).
CONCLUSION:The c.2609C>G variant of the ZEB2 gene probably underlay the MWS in this child. The mosaicism of the variant may explain his mild symptoms.
