Genetic analysis of a child with glycogen storage disease type IXa due to a novel variant in PHKA2 gene.
10.3760/cma.j.cn511374-20210610-00495
- Author:
Ganye ZHAO
1
;
Wenzhe SI
;
Xuechao ZHAO
;
Li'na LIU
;
Conghui WANG
;
Xiangdong KONG
Author Information
1. Genetics and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. kongxdgene@163.com.
- Publication Type:Journal Article
- MeSH:
Child;
Family;
Genetic Testing;
Glycogen Storage Disease/pathology*;
High-Throughput Nucleotide Sequencing/methods*;
Humans;
Male;
Mutation;
Phosphorylase Kinase/genetics*
- From:
Chinese Journal of Medical Genetics
2022;39(9):988-991
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic etiology of a patient with glycogen storage diseases.
METHODS:Clinical data of child and his parents were collected. The genes associated with glycogen storage diseases were subjected to high-throughput sequencing to screen the variants. Candidate variant was validated by Sanger sequencing. Pathogenicity of the variant was predicted by bioinformatic analysis.
RESULTS:High-throughput sequencing results showed that the boy has carried a hemizygous c.749C>T (p.S250L) variant of the PHKA2 gene. Sanger sequencing verified the results and confirmed that it was inherited from his mother. This variant was unreported previously and predicted to be pathogenic by bioinformatic analysis.
CONCLUSION:The patient was diagnosed with glycogen storage disease type IXa due to a novel c.749C>T (p.S250L) hemizygous variant of the PHKA2 gene. High-throughput sequencing can facilitate timely and accurate differential diagnosis of glycogen storage disease type IXa.
