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:
  • Adult
  • Aged
  • Animals
  • Animals, Genetically Modified
  • Base Sequence
  • Blood Platelets/metabolism*
  • Blood Platelets/pathology
  • Cytoplasmic Granules/metabolism*
  • Embryo, Nonmammalian/cytology
  • Embryo, Nonmammalian/metabolism
  • Female
  • Gene Expression Regulation, Developmental
  • Gray Platelet Syndrome/genetics*
  • Humans
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Nerve Tissue Proteins/antagonists & inhibitors
  • Nerve Tissue Proteins/genetics*
  • Pedigree
  • Secretory Vesicles/metabolism*
  • Sequence Analysis, DNA
  • Sequence Homology, Nucleic Acid
  • Young Adult
  • Zebrafish/growth & development
  • Zebrafish/metabolism
PubMed: 21765411 Full text @ Nat. Genet.
FIGURES
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