Novel mutations associated with pyruvate kinase deficiency in Brazil.

ABSTRACT: BACKGROUND:Pyruvate kinase deficiency is a hereditary disease that affects the glycolytic pathway of the red blood cell, causing nonspherocytic hemolytic anemia. The disease is transmitted as an autosomal recessive trait and shows a marked variability in clinical expression. This study reports on the molecular characterization of ten Brazilian pyruvate kinase-deficient patients and the genotype-phenotype correlations. METHOD:Sanger sequencing and in silico analysis were carried out to identify and characterize the genetic mutations. A non-affected group of Brazilian individuals were also screened for the most commonly reported variants (c.1456C>T and c.1529G>A). RESULTS:Ten different variants were identified in the PKLR gene, of which three are reported here for the first time: p.Leu61Gln,

SUBMITTER: Svidnicki MCCM 

PROVIDER: S-EPMC6003125 | biostudies-literature | 2018 Jan - Mar

REPOSITORIES: biostudies-literature