Glycogen storage syndrome type 0 caused by GYS2 gene variation and phenotypic differences between two siblings.
10.3760/cma.j.cn511374-20200511-00336
- Author:
Yinting LIAO
1
;
Yang TIAN
;
Xiaojing LI
;
Yiru CAO
;
Chi HOU
;
Huici LIANG
;
Wenxiong CHEN
Author Information
1. Departmentof Pediatric Neurology, Guangzhou Women and Children's Medical Center, Guangzhou, Guangdong 510620, China. gzchcwx@126.com.
- Publication Type:Journal Article
- MeSH:
Child;
Exons;
Glycogen;
Heterozygote;
Humans;
Mutation;
Pedigree;
Siblings
- From:
Chinese Journal of Medical Genetics
2021;38(11):1110-1113
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To provide a basis for genetic counseling and clinical precision therapy by exploring the genetic etiology of a child with recurrent hypoglycemia convulsion accompanied by language retardation.
METHODS:Peripheral blood samples were obtained from the proband, his sister and his parents. Whole genomic DNA was extracted and analyzed by the whole exon gene sequencing and confirmed by Sanger sequencing.
RESULTS:The proband and his sister were found to carry compound heterozygous variants c.731T>A (p.M244L) and c.928G>A (p.G244S) of the GYS2 gene, which had not been reported in the past, the c.731T>A (p.M244L) site was derived from the maternal heterozygous mutation, while c.928G>A (p.G244S) site from the father heterozygous mutation.
CONCLUSION:The compound heterozygous variants c.731T>A (p.M244L) and c.928G>A (p.G244S) of the GYS2 gene were the genetic cause of glycogen storage syndrome type 0 in children, providing basis for family genetic counseling. When the patient had Hypoglycemia often accompanied with convulsions, which was easy to be misdiagnosed as seizures, and the antiepileptic treatment was ineffective. After genetic diagnosis, the seizure can be controlled by improving diet to maintain blood glucose stability.
