Clinical features and genetic analysis of a child with glycogen storage disease type VI.
10.3760/cma.j.cn511374-20211005-00799
- VernacularTitle:一例糖原贮积症Ⅵ型患儿的临床表型及致病变异分析
- Author:
Lisha SU
1
;
Chaofeng ZHU
;
Jing WU
;
Xiangdong KONG
Author Information
1. Genetics and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. kongxd@263.net.
- Publication Type:Journal Article
- MeSH:
Child;
Genetic Testing;
Glycogen Storage Disease Type VI/genetics*;
Humans;
Infant;
Male;
Mutation;
Transaminases/genetics*;
Exome Sequencing
- From:
Chinese Journal of Medical Genetics
2022;39(10):1099-1102
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the clinical features and genetic etiology of a child with glycogen storage disease VI (GSD-VI).
METHODS:Clinical data and laboratory results of the patient were collected. Whole exome sequencing (WES) was carried out for the patient. Candidate variant and its parental origin was verified by Sanger sequencing.
RESULTS:The patient was a 3-year-and-9-month old boy whom has featured abdominal distention, hepatomegaly, short stature and elevated hepatic transaminase. WES revealed the he has harbored compound heterozygous variants of the PYGL gene, namely c.697G>A (p.Gly233Ser) and c.320dupA (p.Asn107fs). Sanger sequencing has verified that the two variants have derived from his father and mother, respectively. The c.320dupA (p.Asn107fs) variant was unreported previously.
CONCLUSION:The compound heterozygous variants of the PYGL gene probably underlay the GSD-VI in this patient. Above finding has enriched the spectrum of PYGL gene variants and provided a basis for the treatment and genetic counseling.
