Identification and in silico characterization of a novel PKLR genotype in a Turkish newborn.
Mol Biol Rep
; 47(10): 8311-8315, 2020 Oct.
Article
em En
| MEDLINE
| ID: mdl-32974842
ABSTRACT
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.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Piruvato Quinase
/
Erros Inatos do Metabolismo dos Piruvatos
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Mutação de Sentido Incorreto
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Anemia Hemolítica Congênita não Esferocítica
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Humans
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Male
/
Newborn
Idioma:
En
Revista:
Mol Biol Rep
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
Itália