Sivapalaratnam, S. et al. (2017) Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia. Blood, 129(4), pp. 520-524. (doi: 10.1182/blood-2016-08-732248) (PMID:28064200) (PMCID:PMC6037295)
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Abstract
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 variants in GP1BA have been reported to cause a milder and dominant form of macrothrombocytopenia, but only 2 tentative reports exist of such a variant in GP1BB. By analyzing data from a collection of more than 1000 genome-sequenced patients with a rare bleeding and/or platelet disorder, we have identified a significant association between rare monoallelic variants in GP1BB and macrothrombocytopenia. To strengthen our findings, we sought further cases in 2 additional collections in the United Kingdom and Japan. Across 18 families exhibiting phenotypes consistent with autosomal dominant inheritance of macrothrombocytopenia, we report on 27 affected cases carrying 1 of 9 rare variants in GP1BB.
| Item Type: | Articles |
|---|---|
| Status: | Published |
| Refereed: | Yes |
| Glasgow Author(s) Enlighten ID: | Tait, Dr Robert |
| Authors: | Sivapalaratnam, S., Westbury, S. K., Stephens, J. C., Greene, D., Downes, K., Kelly, A. M., Lentaigne, C., Astle, W. J., Huizinga, E. G., Nurden, P., Papadia, S., Peerlinck, K., Penkett, C. J., Perry, D. J., Roughley, C., Simeoni, I., Stirrups, K., Hart, D. P., Tait, R. C., Mumford, A. D., Laffan, M. A., Freson, K., Ouwehand, W. H., Kunishima, S., and Turro, E. |
| College/School: | College of Medical Veterinary and Life Sciences > School of Cardiovascular & Metabolic Health |
| Journal Name: | Blood |
| Publisher: | American Society of Hematology |
| ISSN: | 0006-4971 |
| ISSN (Online): | 1528-0020 |
| Published Online: | 14 November 2016 |
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