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
  • Sequence Homology, Nucleic Acid
  • Secretory Vesicles/metabolism*
  • Young Adult
  • Gray Platelet Syndrome/genetics*
  • Base Sequence
  • Blood Platelets/metabolism*
  • Blood Platelets/pathology
  • Middle Aged
  • Embryo, Nonmammalian/cytology
  • Embryo, Nonmammalian/metabolism
  • Pedigree
  • Animals
  • Female
  • Adult
  • Animals, Genetically Modified
  • Cytoplasmic Granules/metabolism*
  • Humans
  • Nerve Tissue Proteins/antagonists & inhibitors
  • Nerve Tissue Proteins/genetics*
  • Male
  • Sequence Analysis, DNA
  • Gene Expression Regulation, Developmental
  • Aged
  • Molecular Sequence Data
  • Zebrafish/growth & development
  • Zebrafish/metabolism
(all 26)
PubMed
21765411 Full text @ Nat. Genet.
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
Figures
No images available
Show all Figures
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Antibodies
Orthology
Engineered Foreign Genes
Mapping
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
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.