PKLR mutations in pyruvate kinase deficient Polish patients: Functional characteristics of c.101-1G > A and c.1058delAAG variants.
Blood Cells Mol Dis
; 107: 102841, 2024 Jul.
Article
em En
| MEDLINE
| ID: mdl-38581917
ABSTRACT
Pyruvate kinase (PK) deficiency is a rare autosomal recessive disorder characterized by chronic hemolytic anemia of variable severity. Nine Polish patients with severe hemolytic anemia but normal PK activity were found to carry mutations in the PKLR gene encoding PK, five already known ones and one novel (c.178C > T). We characterized two of the known variants by molecular modeling (c.1058delAAG) and minigene splicing analysis (c.101-1G > A). The former gives a partially destabilized PK tetramer, likely of suboptimal activity, and the c.101-1G > A variant gives alternatively spliced mRNA carrying a premature stop codon, encoding a severely truncated PK and likely undergoing nonsense-mediated decay.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Piruvato Quinase
/
Erros Inatos do Metabolismo dos Piruvatos
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Anemia Hemolítica Congênita não Esferocítica
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Mutação
Limite:
Adolescent
/
Child
/
Child, preschool
/
Female
/
Humans
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Infant
/
Male
País/Região como assunto:
Europa
Idioma:
En
Revista:
Blood Cells Mol Dis
Assunto da revista:
HEMATOLOGIA
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Polônia