Identification of a novel mutation in the PHKA2 gene in a child with liver cirrhosis.
| Autor: | Beyzaei Z; Shiraz Transplant Research Center (STRC), Shiraz University of Medical Sciences, Shiraz, Iran., Ezgu F; Department of Pediatric Metabolism and Genetics, Gazi University Faculty of Medicine, Ankara, Turkey., Imanieh MH; Gastroenterology and Hepatology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran., Geramizadeh B; Shiraz Transplant Research Center (STRC), Shiraz University of Medical Sciences, Shiraz, Iran.; Department of Pathology, Shiraz University of Medical Sciences, Shiraz, Iran. |
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| Jazyk: | angličtina |
| Zdroj: | Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2021 Nov 02; Vol. 35 (3), pp. 417-420. Date of Electronic Publication: 2021 Nov 02 (Print Publication: 2022). |
| DOI: | 10.1515/jpem-2021-0385 |
| Abstrakt: | Objectives: Glycogen storage diseases (GSDs) are heterogeneous disorders caused by various enzyme deficiencies. GSD type IX α2, the most common subtype of GSD IX, is due to a deficiency of hepatic phosphorylase kinase. Herein we will report a novel mutation in this disease with an unusual presentation. Case Presentation: we describe a 3-year-old boy who suffered from hepatomegaly, fatty liver disease, and liver cirrhosis. The cause of cirrhosis at a young age was unknown based on the laboratory data and liver biopsy, so we performed a targeted-gene sequencing (TGS) covering 450 genes involved in inborn metabolic diseases consisting of glycogen storage disorders genes with hepatic involvement. He was found out to have a rare novel pathogenic variant in the PHKA2 gene. Conclusions: This novel variant c.2226+2T > C expands the mutational spectrum of the PHKA2 gene. Also, severe liver damage (cirrhosis) in patients with GSD- IX α2 has rarely been reported, which needs further discussion. We hypothesize that unidentified PHKA2 variants may be a rare cause of childhood liver cirrhosis. (© 2021 Walter de Gruyter GmbH, Berlin/Boston.) |
| Databáze: | MEDLINE |
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