Novel mutations associated with pyruvate kinase deficiency in Brazil
Hematol., Transfus. Cell Ther. (Impr.)
; 40(1): 5-11, Jan.-Mar. 2018. tab, ilus
Artigo
em Inglês
| LILACS
| ID: biblio-953798
Biblioteca responsável:
BR408.1
Localização: BR408.1
ABSTRACT
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, p.Ala137Val and p.Ala428Thr. All the three missense variants involve conserved amino acids, providing a rationale for the observed enzyme deficiency. The allelic frequency of c.1456C>T was 0.1% and the 1529G>A variant was not found.Conclusion:
This is the first comprehensive report on molecular characterization of pyruvate kinase deficiency from South America. The results allowed us to correlate the severity of the clinical phenotype with the identified variants.
Texto completo:
Disponível
Coleções:
Bases de dados internacionais
Base de dados:
LILACS
Assunto principal:
Piruvato Quinase
/
Eritrócitos
/
Anemia Hemolítica
/
Mutação
Tipo de estudo:
Fatores de risco
Limite:
Feminino
/
Humanos
/
Masculino
País/Região como assunto:
América do Sul
/
Brasil
Idioma:
Inglês
Revista:
Hematol., Transfus. Cell Ther. (Impr.)
Assunto da revista:
Hematologia
/
TransfusÆo de Sangue
Ano de publicação:
2018
Tipo de documento:
Artigo
País de afiliação:
Brasil
Instituição/País de afiliação:
Centro Infantil Bondrini/BR
/
Hospital da Criança de Brasília (HCB)/BR
/
Universidade Estadual de Campinas/BR
/
Universidade de São Paulo/BR