PUBLICATION
Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome
- Authors
- 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.
- ID
- ZDB-PUB-110719-42
- Date
- 2011
- Source
- Nature Genetics 43(8): 735-7 (Journal)
- Registered Authors
- Kettleborough, Ross
- Keywords
- none
- MeSH Terms
-
- Aged
- Nerve Tissue Proteins/antagonists & inhibitors
- Nerve Tissue Proteins/genetics*
- Male
- Pedigree
- Gene Expression Regulation, Developmental
- Female
- Gray Platelet Syndrome/genetics*
- Cytoplasmic Granules/metabolism*
- Molecular Sequence Data
- Animals
- Base Sequence
- Humans
- Young Adult
- Blood Platelets/metabolism*
- Blood Platelets/pathology
- Zebrafish/growth & development
- Zebrafish/metabolism
- Adult
- Embryo, Nonmammalian/cytology
- Embryo, Nonmammalian/metabolism
- Secretory Vesicles/metabolism*
- Middle Aged
- Sequence Homology, Nucleic Acid
- Animals, Genetically Modified
- Sequence Analysis, DNA
- 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.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping