Novel mutations in the PHKB gene in an iranian girl with severe liver involvement and glycogen storage disease type IX: a case report and review of literature

BMC Pediatrics

Fatih Ezgu¹  Zahra Beyzaei²  Bita Geramizadeh³  Alireza Alborzi⁴  Alireza Shojazadeh⁴ 

[1]Department of Pediatric Metabolism and Genetic, Gazi University Faculty of Medicine, Ankara, Turkey

[2]Shiraz Transplant Research Center (STRC), Shiraz University of Medical Sciences, Shiraz, Iran

[3]Shiraz Transplant Research Center (STRC), Shiraz University of Medical Sciences, Shiraz, Iran

[4]Department of Pathology, Shiraz University of Medical Sciences, Shiraz, Iran

[5]Shiraz, Iran

[6]Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran

关键词: Glycogen storage disease;    Phosphorylase kinase;    PHKB;    Novel mutation;    Targeted gene sequencing;   

DOI  :  10.1186/s12887-021-02648-6

来源: Springer

【 摘 要 】

BackgroundGlycogen storage disease (GSD) type IXb is one of the rare variants of GSDs. It is a genetically heterogeneous metabolic disorder due to deficient hepatic phosphorylase kinase activity. Diagnosis of GSD can be difficult because of overlapping manifestations. Mutation analysis of the genes related to each type of GSD is supposed to be problem-solving, however, the presence of novel mutations can be confusing. In this case report, we will describe our experience with a young girl with the diagnosis of GSD and two novel mutations related to GSD type IXb.Case presentationA 3-year- old girl presented with short stature, hepatomegaly, and liver cirrhosis. No specific diagnosis was made based on laboratory data, so liver biopsy and targeted-gene sequencing (TGS) were performed to find out the specific molecular basis of her disease. It was confirmed that the patient carries two novel variants in the PHKB gene. The variant in the PHKB gene was classified as pathogenic.ConclusionsThis is the first reported case of a dual molecular mutation of glycogen storage disease type IXb in the same patient. Two novel variants in PHKB were identified and one of them was a pathogenic split-site mutation. In conclusion, for the first time, identification of the novel variants in this patient expands the molecular and the phenotype basis of dual variants in GSD-IXb.

【 授权许可】

CC BY