Genome-wide linkage analysis and whole-exome sequencing identifies an ITGA2B mutation in a family with thrombocytopenia.
Br J Haematol
; 186(4): 574-579, 2019 08.
Article
em En
| MEDLINE
| ID: mdl-31119735
ABSTRACT
Hereditary thrombocytopenias can be subclassified based on mode of inheritance and platelet size. Here we report a family with autosomal dominant (AD) thrombocytopenia with normal platelet size. Linkage analysis and whole exome sequencing identified the R1026W substitution in ITGA2B as the causative defect. The same mutation has been previously reported in 7 Japanese families/patients with AD thrombocytopenia, but all of these patients had macrothrombocytopenia. This is the first report of a family with AD thrombocytopenia with normal platelet size resulting from mutation in ITGA2B. ITGA2B mutations should therefore be included in the differential diagnosis of this latter disorder.
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Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Trombocitopenia
/
Integrina alfa2
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Sequenciamento do Exoma
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Ligação Genética
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Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Female
/
Humans
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Male
Idioma:
En
Revista:
Br J Haematol
Ano de publicação:
2019
Tipo de documento:
Article
País de afiliação:
Estados Unidos