| ZFIN ID: ZDB-PUB-110719-42 |
Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome
Albers, C.A., Cvejic, A., Favier, R., Bouwmans, E.E., Alessi, M.C., Bertone, P., Jordan, G., Kettleborough, R.N., Kiddle, G., Kostadima, M., Read, R.J., Sipos, B., Sivapalaratnam, S., Smethurst, P.A., Stephens, J., Voss, K., Nurden, A., Rendon, A., Nurden, P., and Ouwehand, W.H.
| Date: | 2011 |
|---|---|
| Source: | Nature Genetics 43(8): 735-7 (Journal) |
| Registered Authors: | Kettleborough, Ross |
| Keywords: | none |
| MeSH Terms: |
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| PubMed: | 21765411 Full text @ Nat. Genet. |
Citation
Albers, C.A., Cvejic, A., Favier, R., Bouwmans, E.E., Alessi, M.C., Bertone, P., Jordan, G., Kettleborough, R.N., Kiddle, G., Kostadima, M., Read, R.J., Sipos, B., Sivapalaratnam, S., Smethurst, P.A., Stephens, J., Voss, K., Nurden, A., Rendon, A., Nurden, P., and Ouwehand, W.H. (2011) Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. Nature Genetics. 43(8):735-7.
ABSTRACT
Gray platelet syndrome (GPS) is a predominantly recessive platelet disorder that is characterized by mild thrombocytopenia with large platelets and a paucity of α-granules; these abnormalities cause mostly moderate but in rare cases severe bleeding. We sequenced the exomes of four unrelated individuals and identified NBEAL2 as the causative gene; it has no previously known function but is a member of a gene family that is involved in granule development. Silencing of nbeal2 in zebrafish abrogated thrombocyte formation.
ADDITIONAL INFORMATION
- Genes / Markers (1)
- Morpholino (1)
- Engineered Foreign Genes (1)
- Phenotype Data
- Mutations and Transgenics (1)
- Fish (3)
- Orthology (1)