Methemoglobin reductase deficiency: novel mutation is associated with a disease phenotype of intermediate severity.
J Pediatr Hematol Oncol
; 34(6): 457-60, 2012 Aug.
Article
em En
| MEDLINE
| ID: mdl-22627575
ABSTRACT
BACKGROUND:
Cytochrome b5 reductase (CB5R) deficiency is a recessively inherited autosomal disorder that is either benign (type I) or associated with severe neurological problems (type II). Specific mutations in the CYB5R gene are not exclusive to each type. OBSERVATION Two cyanotic children with developmental delay but with slow progression were investigated for CB5R deficiency. A novel mutation, p.Arg58Pro, was independently detected in both cases.CONCLUSIONS:
The clinical variability and severity of the disease reflect the combined effects of impaired function of the 2 mutant enzymes. As illustrated by these 2 cases, inheritance of p.Arg58Pro with either p.Gly76Ser or pLeu188del causes a clinical condition more severe than type I and less severe than the type II cases reported to date.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Deficiências do Desenvolvimento
/
Citocromo-B(5) Redutase
/
Metemoglobinemia
/
Mutação
Tipo de estudo:
Prognostic_studies
/
Risk_factors_studies
Limite:
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
J Pediatr Hematol Oncol
Assunto da revista:
HEMATOLOGIA
/
NEOPLASIAS
/
PEDIATRIA
Ano de publicação:
2012
Tipo de documento:
Article