Clinical manifestation and genetic analysis of a child with early infantile epileptic encephalopathy 42.
10.3760/cma.j.cn511374-20201022-00743
- VernacularTitle:一例早发癫痫性脑病42型患儿的临床表型及基因变异分析
- Author:
Yan RAN
1
;
Yuan LYU
;
Hua BAI
;
Chuang LI
;
Jesse LI-LING
Author Information
1. Department of Obstetrics, People's Hospital of China Medical University, Shenyang, Liaoning 110016, China. ranyan1124@163.com.
- Publication Type:Journal Article
- MeSH:
Calcium Channels/genetics*;
Genetic Testing;
Heterozygote;
Humans;
Infant;
Mutation;
Spasms, Infantile/genetics*;
Whole Exome Sequencing
- From:
Chinese Journal of Medical Genetics
2021;38(2):127-130
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the clinical phenotype and genetic characterization of a child with early infantile epileptic encephalopathy.
METHODS:The proband was subjected to history taking and was diagnosed based on his clinical manifestation, magnetic resonance imaging (MRI) and whole exome sequencing (WES). Sanger sequencing was carried out to determine the origin of pathogenic variant.
RESULTS:The proband unconsciously tilts his head to one side with squint, which revealed an abnormal discharge. MRI indicated suspicious abnormal signal shadow in the left posterior frontal cortex in addition with inflammation signs in the right maxillary sinus and ethmoid sinus. WES revealed that the proband has carried a heterozygous c.5789G>A variant in the CACNAIA gene. The result of Sanger sequencing was in keeping with that of WES. Neither of his parents has carried the same variant.
CONCLUSION:The heterozygous c.5789G>A variant of the CACNAIA gene probably underlay the early infantile epileptic encephalopathy 42 in the proband, which has a de novo origin.
