Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.

doi:10.1182/blood-2016-08-732248

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Article

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.

Blood - 26 Jan 2017

Sivapalaratnam Suthesh, Westbury Sarah K, Stephens Jonathan C, Greene Daniel, Downes Kate, Kelly Anne M, Lentaigne Claire, Astle William J, Huizinga Eric G, Nurden Paquita, Papadia Sofia, Peerlinck Kathelijne, Penkett Christopher J, Perry David J, Roughley Catherine, Simeoni Ilenia, Stirrups Kathleen, Hart Daniel P, Tait R Campbell, Mumford Andrew D, Laffan Michael A, Freson Kathleen, Ouwehand Willem H, Kunishima Shinji, Turro Ernest

Abstract excerpt

The von Willebrand receptor complex, which is composed of the glycoproteins Ibα, Ibβ, GPV, and GPIX, plays an essential role in the earliest steps in hemostasis. During the last 4 decades, it has become apparent that loss of function of any 1 of 3 of the genes encoding these glycoproteins (namely, GP1BA, GP1BB, and GP9) leads to autosomal recessive macrothrombocytopenia complicated by bleeding. A small number of...

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PMID: 28064200
DOI: 10.1182/blood-2016-08-732248
PMCID: PMC6037295

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