Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B.
Mol Genet Metab
; 120(3): 288-294, 2017 03.
Article
em 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.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Proteínas Repressoras
/
Deficiência do Pool Plaquetário
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Proteínas Proto-Oncogênicas
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Análise de Sequência de DNA
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Mutação
Tipo de estudo:
Risk_factors_studies
Limite:
Adolescent
/
Child
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article