title: Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome.
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.
authors.affiliation: Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK. caa@sanger.ac.uk
authors.forename: Cornelis A
authors.initials: CA
authors.lastname: Albers
authors.forename: Ana
authors.initials: A
authors.lastname: Cvejic
authors.forename: Rémi
authors.initials: R
authors.lastname: Favier
authors.forename: Evelien E
authors.initials: EE
authors.lastname: Bouwmans
authors.forename: Marie-Christine
authors.initials: MC
authors.lastname: Alessi
authors.forename: Paul
authors.initials: P
authors.lastname: Bertone
authors.forename: Gregory
authors.initials: G
authors.lastname: Jordan
authors.forename: Ross N W
authors.initials: RN
authors.lastname: Kettleborough
authors.forename: Graham
authors.initials: G
authors.lastname: Kiddle
authors.forename: Myrto
authors.initials: M
authors.lastname: Kostadima
authors.forename: Randy J
authors.initials: RJ
authors.lastname: Read
authors.forename: Botond
authors.initials: B
authors.lastname: Sipos
authors.forename: Suthesh
authors.initials: S
authors.lastname: Sivapalaratnam
authors.forename: Peter A
authors.initials: PA
authors.lastname: Smethurst
authors.forename: Jonathan
authors.initials: J
authors.lastname: Stephens
authors.forename: Katrin
authors.initials: K
authors.lastname: Voss
authors.forename: Alan
authors.initials: A
authors.lastname: Nurden
authors.forename: Augusto
authors.initials: A
authors.lastname: Rendon
authors.forename: Paquita
authors.initials: P
authors.lastname: Nurden
authors.forename: Willem H
authors.initials: WH
authors.lastname: Ouwehand
mesh_terms: D000328:Adult; D000368:Aged; D000818:Animals; D030801:Animals, Genetically Modified; D001483:Base Sequence; D001792:Blood Platelets / Q000378:metabolism* / Q000473:pathology; D003594:Cytoplasmic Granules / Q000378:metabolism*; D004625:Embryo, Nonmammalian / Q000166:cytology / Q000378:metabolism; D005260:Female; D018507:Gene Expression Regulation, Developmental; D055652:Gray Platelet Syndrome / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000037:antagonists & inhibitors / Q000235:genetics*; D010375:Pedigree; D022142:Secretory Vesicles / Q000378:metabolism*; D017422:Sequence Analysis, DNA; D012689:Sequence Homology, Nucleic Acid; D055815:Young Adult; D015027:Zebrafish / Q000254:growth & development / Q000378:metabolism
chemical_list: D009419:Nerve Tissue Proteins