Clinical and genetic analysis of two children with Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language due to de novo variants of MEF2C gene.
10.3760/cma.j.cn511374-20221024-00713
- VernacularTitle:MEF2C基因变异所致NEDHSIL患儿2例的临床及遗传学分析
- Author:
Lulu YAN
1
;
Danyan ZHUANG
;
Youqu TU
;
Yuxin ZHANG
;
Yingwen LIU
;
Yan HE
;
Haibo LI
Author Information
1. Central Laboratory for Birth Defect Prevention and Control, Ningbo Women and Children's Hospital, Ningbo, Zhejiang 315012, China. lihaibo-775@163.com.
- Publication Type:Journal Article
- MeSH:
Child;
Humans;
Family;
Genetic Counseling;
Language;
MEF2 Transcription Factors/genetics*;
Muscle Hypotonia/genetics*;
Neurodevelopmental Disorders
- From:
Chinese Journal of Medical Genetics
2023;40(10):1252-1256
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the clinical characteristics and genetic etiology for two children with Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language (MEDHSIL).
METHODS:Two children who had visited the Ningbo Women and Children's Hospital on October 15, 2021 were selected as the study subjects. Whole exome sequencing (WES) was carried out for both patients. Candidate variants were verified by Sanger sequencing of their family members.
RESULTS:The two children were respectively found to harbor a heterozygous c.138delC (p.Ile47Serfs*42) variant and a c.833del (p.L278*) variant of the MEF2C gene. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were predicted to be pathogenic (PVS1+PS2+PM2_Supporting).
CONCLUSION:The c.138delC and c.833del variants of the MEF2C gene probably underlay the pathogenesis of MEDHSIL in the two children. Above findings have enriched the mutational spectrum of the MEF2C gene and enabled genetic counseling for their families.
