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Identification and in silico characterization of a novel PKLR genotype in a Turkish newborn

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Akademik Birimler

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Canu, Giulia
De Paolis, Elisa
Righino, Benedetta
Mazzuccato, Giorgia
De Paolis, Giulio
Capoluongo, Ettore
De Rosa, Maria Cristina
Urbani, Andrea
Güneş, Adalet Meral
Minucci, Angelo

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Springer

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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 ofPyruvate Kinase Liver/Red(PKLR)gene revealed that the patient carried the known pathogenic variant (PV)c.1456C > T(p.Arg486Trp) and an unreported variantc.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 thenovel PKLRgenotype, coupled with CVA led to the definitive and correct diagnosis of CNSHA.

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Pyruvate-kinase, Deficiency, Computational variant analysis, Pk deficiency, Novelpklrgenotype, Biochemistry & molecular biology

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