| Literature DB >> 31119735 |
Rami Khoriaty1,2,3, Ayse B Ozel4, Shweta Ramdas5, Charles Ross6, Karl Desch7, Jordan A Shavit7, Lesley Everett4, David Siemieniak8, Jun Z Li4,5, David Ginsburg1,4,7,8,9.
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.Entities:
Keywords: zzm321990ITGA2Bzzm321990; autosomal dominant thrombocytopenia; hereditary thrombocytopenia; linkage analysis; whole exome sequencing
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Year: 2019 PMID： 31119735 PMCID： PMC6679728 DOI： 10.1111/bjh.15961
Source DB: PubMed Journal: Br J Haematol ISSN： 0007-1048 Impact factor: 6.998