Genetic analysis of a case with MEF2C deletion in association with 5q14.3 microdeletion syndrome.
10.3760/cma.j.cn511374-20200608-00417
- VernacularTitle:一例
MEF2C缺失变异相关的5q14.3微缺失综合征的遗传学分析
- Author:
Taocheng ZHOU
1
;
Wei SU
;
Dong LIANG
;
Yanhong XU
;
Yuanyuan LUO
;
Guanglei TONG
Author Information
1. Department of Rehabilitation Medicine, Anhui Provincial Children's Hospital, Hefei, Anhui 230051, China. tong704@sina.com.
- Publication Type:Journal Article
- MeSH:
Child;
Chromosome Deletion;
Chromosome Disorders;
Epilepsy;
Fragile X Mental Retardation Protein;
Humans;
Intellectual Disability/genetics*;
Karyotyping;
MEF2 Transcription Factors/genetics*
- From:
Chinese Journal of Medical Genetics
2021;38(8):779-782
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a child with febrile seizures.
METHODS:Peripheral venous blood samples were taken from the child and his parents for the analysis of chromosomal karyotype and dynamic variant of the FMR1 gene. The family trio was also subjected to target capture and next generation sequencing (NGS) with a gene panel related to developmental retardation, mental retardation, language retardation, epilepsy and special facial features.
RESULTS:The child was found to have a normal karyotype by conventional cytogenetic analysis (400 bands). No abnormal expansion was found with the CGG repeats of the FMR1 gene. NGS revealed that the child has carried a heterozygous c.864+1 delG variant of the MEF2C gene, which may lead to abnormal splicing and affect its protein function. The same variant was found in neither parent, suggesting that it has a de novo origin. Based on the American College of Medical Genetics and Genomics standards and guidelines, c.864+1delG variant of MEF2C gene was predicted to be pathogenic (PVS1+PS2+PM2).
CONCLUSION:MEF2C, as the key gene for chromosome 5q14.3 deletion syndrome which was speculated as a cause for febrile seizures, has an autosomal dominant effect. The c.864+1delG variant of the MEF2C gene may account for the febrile seizures in this patient.
