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
| Autor: | Fatih Süheyl Ezgü, Alireza Alborzi, Bita Geramizadeh, Zahra Beyzaei, Alireza Shojazadeh |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Glycogen Storage Disease Type IX Phosphorylase kinase Novel mutation Case Report Iran medicine.disease_cause Pediatrics RJ1-570 03 medical and health sciences 0302 clinical medicine Medicine Glycogen storage disease Humans Kinase activity Genetics Mutation medicine.diagnostic_test business.industry Genetic heterogeneity nutritional and metabolic diseases medicine.disease Targeted gene sequencing PHKB 030104 developmental biology Liver Liver biopsy Child Preschool Pediatrics Perinatology and Child Health Mutation testing Female business 030217 neurology & neurosurgery |
| Zdroj: | BMC Pediatrics, Vol 21, Iss 1, Pp 1-5 (2021) BMC Pediatrics |
| Popis: | Background Glycogen 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 presentation A 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. Conclusions This 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. |
| Databáze: | OpenAIRE |
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