Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B.
Mol Genet Metab
; 120(3): 288-294, 2017 03.
Article
en En
| MEDLINE
| ID: mdl-28041820
ABSTRACT
Combined alpha-delta platelet storage pool deficiency is characterized by the absence or reduction in the number of both alpha granules and dense bodies. This disorder can have variable severity as well as a variable inheritance pattern. We describe two patients from unrelated families with combined alpha-delta storage pool deficiency due to mutations in GFI1B, a zinc finger protein known to act as a transcriptional repressor of various genes. We demonstrate that this disease is associated with either a heterozygous mutation (de novo or familial) abrogating the binding of the zinc fingers with the promoter of its target genes, or by hypomorphic biallelic mutations in GFI1B leading to autosomal recessive inheritance.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Proteínas Represoras
/
Deficiencia de Almacenamiento del Pool Plaquetario
/
Proteínas Proto-Oncogénicas
/
Análisis de Secuencia de ADN
/
Mutación
Tipo de estudio:
Risk_factors_studies
Límite:
Adolescent
/
Child
/
Humans
/
Male
Idioma:
En
Revista:
Mol Genet Metab
Asunto de la revista:
BIOLOGIA MOLECULAR
/
BIOQUIMICA
/
METABOLISMO
Año:
2017
Tipo del documento:
Article