Analysis of the clinical features and pathogenic genetic mutations of children with different types of glycogen storage disease
10.3760/cma.j.cn101070-20241001-00632
- VernacularTitle:不同类型糖原贮积症患儿临床特征和致病基因突变分析
- Author:
Weiliang LIU
1
;
Fang LI
Author Information
1. 贵州医科大学附属医院儿科，贵阳 550004
- Publication Type:Journal Article
- Keywords:
Child;
Glycogen storage disease;
Gene;
Clinical characteristic
- From:
Chinese Journal of Applied Clinical Pediatrics
2025;40(6):448-452
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the clinical and genetic characteristics of 8 children with different types of glycogen storage disease (GSD) in Guizhou, China.Methods:Case series study.The clinical features of 8 patients with GSD admitted to Department of Pediatrics, Affiliated Hospital of Guizhou Medical University from October 2018 to October 2023 were analyzed.Genomic DNA samples were obtained from the peripheral blood of the patients and their parents, whole exome detection of the patients and their family members was made using targeted next-generation sequencing.Sanger sequencing was used to verify the mutation sites.Results:Eight GSD patients from 7 families were enrolled, who showed symptoms of liver function impairment (100%, 8/8), retarded growth (88%, 7/8), hypoglycaemia (86%, 6/7), hyperlactatemia (86%, 6/7), hyperlipidaemia (86%, 6/7), abdominal distension and hepatomegaly (75%, 6/8), and hyperuricemia (67%, 4/6), etc.There was improvement in prognosis after active treatment, such as corn starch.In GSD Ⅸγ2, novel phenotypes of cardiac disease (electrocardiogram T-wave abnormalities) and peripheral neuropathy were first found worldwide.GSD ⅩⅣ patients were first reported in Chinese.Five novel pathogenic mutations were discovered worldwide, including a heterozygous mutation c.32T>C (p.Phe11Ser) in G6PC1 of GSD Ⅰa, compound heterozygous mutations c. 912_c.913insGC (p.Leu305Alafs*4) and c. 359delC (p.Pro120Hisfs*26) in SLC37A4 of GSD Ⅰb, a heterozygous mutation c. 3404_1422dup (p.Glu1142Valfs*67) in PHKA2 of GSD Ⅸa2, a homozygous mutation c. 873+ 1G>T in PGM1 of GSD ⅩⅣ. Conclusions:In children with different types of GSD, novel clinical phenotypes and genetic mutations have been discovered worldwide, enriching both phenotype and genotype spectra.This study can improve understanding of this disease and assists clinical doctors in better diagnosing and treating GSD in the early stage.
