Wiedemann-Steiner syndrome due to novel nonsense variant of KMT2A gene in a case.
10.3760/cma.j.cn511374-20200122-00046
- Author:
Huiqin XUE
1
;
Yu FENG
;
Chuan ZHANG
;
Lan MA
;
Jianrui WU
;
Qian LI
;
Ting GAO
;
Zongfu CAO
Author Information
1. Shanxi Provincial Children's Hospital (Shanxi Maternal and Child Health Care Hospital), Taiyuan, Shanxi 030013, China. pyxhq@163.com.
- Publication Type:Journal Article
- MeSH:
Abnormalities, Multiple/genetics*;
Child;
Histone-Lysine N-Methyltransferase/genetics*;
Humans;
Intellectual Disability/genetics*;
Male;
Myeloid-Lymphoid Leukemia Protein/genetics*;
Syndrome
- From:
Chinese Journal of Medical Genetics
2021;38(2):138-140
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a child with unexplained global developmental delay (GDD), seizure, and facial deformity.
METHODS:Whole exome sequencing (WES) was carried out for the patient. Candidate variants were verified by Sanger sequencing of the patient and his parents.
RESULTS:WES revealed that the patient has carried a previously unreported de novo heterozygous nonsense c.4906C>T (p.Arg1636Ter) variant of the KMT2A gene, Based on the American College of Medical Genetics and Genomics standards and guidelines, the c.4906C>T variant of KMT2A gene was predicted to be pathogenic (PVS1+ PS2+ PM2+PP3).
CONCLUSION:The heterozygous nonsense c.4906C>T (p.Arg1636Ter) variant of the KMT2A gene probably underlay the disease in the child. Above finding has enriched the spectrum of pathogenic variants of the KMT2A gene.
