Novel mutations associated with pyruvate kinase deficiency in Brazil
Hematol., Transfus. Cell Ther. (Impr.)
; 40(1): 5-11, Jan.-Mar. 2018. tab, ilus
Article
in English
| LILACS
| ID: biblio-953798
Responsible library:
BR408.1
Localization: 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.
Full text:
Available
Collection:
International databases
Database:
LILACS
Main subject:
Pyruvate Kinase
/
Erythrocytes
/
Anemia, Hemolytic
/
Mutation
Type of study:
Risk factors
Limits:
Female
/
Humans
/
Male
Country/Region as subject:
South America
/
Brazil
Language:
English
Journal:
Hematol., Transfus. Cell Ther. (Impr.)
Journal subject:
Hematologia
/
TransfusÆo de Sangue
Year:
2018
Document type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
Centro Infantil Bondrini/BR
/
Hospital da Criança de Brasília (HCB)/BR
/
Universidade Estadual de Campinas/BR
/
Universidade de São Paulo/BR