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Pyruvate kinase deficiency (PKD) is the most common glycolytic defect leading to chronic nonspherocytic hemolytic anemia (CNSHA). Clinical manifestations of PKD reflect the symptoms and complications of the chronic hemolysis, including anemia, jaundice, bilirubin gallstones due to hyperbilirubinemia, splenomegaly and iron overload. In this study, we report the finding of a 5-months-old Turkish male newborn with moderate CNSHA and PKD. Mutation screening of Pyruvate Kinase Liver/Red (PKLR) gene revealed that the patient carried the known pathogenic variant (PV) c.1456C > T (p.Arg486Trp) and an unreported variant c.1067T > G (p.Met356Arg). Computational variant analysis (CVA) highlighted the deleterious structural effects on the mutant PK enzyme, suggesting its pathogenic role. In this patient, the molecular evaluation of PKD, that allowed the identification of the novel PKLR genotype, coupled with CVA led to the definitive and correct diagnosis of CNSHA.

Citation

Giulia Canu, Elisa De Paolis, Benedetta Righino, Giorgia Mazzuccato, Giulio De Paolis, Ettore Capoluongo, Maria Cristina De Rosa, Andrea Urbani, Adalet Meral Gunes, Angelo Minucci. Identification and in silico characterization of a novel PKLR genotype in a Turkish newborn. Molecular biology reports. 2020 Oct;47(10):8311-8315

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PMID: 32974842

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