Glycogen storage disease type VI can progress to cirrhosis: ten Chinese patients with GSD VI and a literature review.

Shi-Qi Lu,Xin-Bao Xie,Jia-Yan Feng,Yi Lu,Jie Liu,Kuerbanjiang Abuduxikuer

doi:10.1515/jpem-2020-0173

Abstract

Objectives The aim of our study is to systematically describe the genotypic and phenotypic spectrum of Glycogen storage disease type VI (GSD VI), especially in Chinses population. Methods We retrospectively analyzed ten Chinese children diagnosed as having GSD VI confirmed by next generation sequencing in Children's Hospital of Fudan University and Jinshan Hospital of Fudan University. We described the genotypic and phenotypic spectrum of GSD VI through the clinical and genetic data we collected. Moreover, we conducted a literature review, and we compared the genotypic and phenotypic spectrum of GSD VI between Chinese population and non Chinese population. Results For the first time, we found that four Chinese patients showed cirrhosis in liver biopsy characterized by the formation of regenerative nodules. In addition, c.772+1G>A and c.1900G>C, p.(Asp634His) were recurrent in three Chinese families and four European families respectively indicating that the genotypic spectrum of PYGLgene may vary among the population. Furthermore, we identified seven novel variants in PYGLgene. Conclusions Our study enriched the genotypic and phenotypic spectrum of GSD VI, and provided a new clue for management of GSD VI.

Highlights

Glycogen storage disease type VI (GSD VI; OMIM #232700) is an autosomal recessive genetic disease caused by the deficiency of hepatic glycogen phosphorylase
Considering the full genotypic and phenotypic spectrum of glycogen storage diseases (GSDs) VI continue to evolve, we reported 10 Chinese patients with GSD VI confirmed by next-generation sequencing (NGS) and reviewed literature to give a systematic description of patients with GSD VI in Chinese population
When we reviewed the literature, we found that a Chinese asymptomatic boy (Hong Kong, China) presented with

Summary

Introduction

Glycogen storage disease type VI (GSD VI; OMIM #232700) is an autosomal recessive genetic disease caused by the deficiency of hepatic glycogen phosphorylase. A GSD VI murine model recapitulating the phenotypes of human GSD VI was generated, there is a paucity of patients with GSD VI confirmed by molecular genetic testing in the literature including only one patient in Hong Kong, China [8, 9]. Considering the full genotypic and phenotypic spectrum of GSD VI continue to evolve, we reported 10 Chinese patients with GSD VI confirmed by next-generation sequencing (NGS) and reviewed literature to give a systematic description of patients with GSD VI in Chinese population. We believe that our study supports an expanding genotypic and phenotypic spectrum of GSD VI

Objectives

Methods

Results

Conclusion