Genetic analysis of PYGL gene variants for a child with Glycogen storage disease VI.
10.3760/cma.j.cn511374-20201225-00913
- VernacularTitle:一例糖原累积病Ⅵ型患儿的
PYGL基因变异分析
- Author:
Yucan ZHENG
1
;
Guiping KONG
;
Guorui HU
;
Bixia ZHENG
;
Mei LI
Author Information
1. Department of Gastroenterology, Children's Hospital of Nanjing Medical University, Nanjing, Jingsu 210008, China. limei6389@ aliyun.com.
- Publication Type:Journal Article
- MeSH:
Child;
Family;
Genetic Testing;
Glycogen Storage Disease Type VI/genetics*;
Humans;
Mutation;
Whole Exome Sequencing
- From:
Chinese Journal of Medical Genetics
2022;39(2):209-212
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the clinical features and genetic basis of a patient with glycogen storage disease type VI (GSD-VI).
METHODS:Clinical data of the patient was collected. Genomic DNA was extracted from peripheral blood samples of the proband and his parents. Genetic variants were detected by using whole exome sequencing. Candidate variants were verified by Sanger sequencing followed by bioinformatics analysis.
RESULTS:The proband presented fasting hypoglycemia, hepatomegaly, growth retardation, transaminitis, metabolic acidosis and hyperlactatemia. Liver biopsy indicated GSD. Novel compound heterozygous PYGL gene variants (c.2089A>G/c.158_160delACT) were detected in the proband. Compound heterozygosity was confirmed by Sanger sequencing of the patient's genomic DNA. Provean and MutationTaster predicted the two variants as deleterious and the variant sites are highly conserved.
CONCLUSION:The compound heterozygous variants (c.2089A>G/c.158_160delACT) of PYGL gene probably underlay the GSD in the patient. The two novel variants have expanded the spectrum of PYGL gene variants and provided the basis for genetic counseling of the family.
