title: Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome.
abstract: Next-generation RNA sequence analysis of platelets from an individual with autosomal recessive gray platelet syndrome (GPS, MIM139090) detected abnormal transcript reads, including intron retention, mapping to NBEAL2 (encoding neurobeachin-like 2). Genomic DNA sequencing confirmed mutations in NBEAL2 as the genetic cause of GPS. NBEAL2 encodes a protein containing a BEACH domain that is predicted to be involved in vesicular trafficking and may be critical for the development of platelet α-granules.
authors.affiliation: Department of Paediatrics, University of Toronto, Division of Haematology/Oncology, The Hospital for Sick Children, Toronto, Ontario, Canada. walter.kahr@sickkids.ca
authors.forename: Walter H A
authors.initials: WH
authors.lastname: Kahr
authors.forename: Jesse
authors.initials: J
authors.lastname: Hinckley
authors.forename: Ling
authors.initials: L
authors.lastname: Li
authors.forename: Hansjörg
authors.initials: H
authors.lastname: Schwertz
authors.forename: Hilary
authors.initials: H
authors.lastname: Christensen
authors.forename: Jesse W
authors.initials: JW
authors.lastname: Rowley
authors.forename: Fred G
authors.initials: FG
authors.lastname: Pluthero
authors.forename: Denisa
authors.initials: D
authors.lastname: Urban
authors.forename: Shay
authors.initials: S
authors.lastname: Fabbro
authors.forename: Brie
authors.initials: B
authors.lastname: Nixon
authors.forename: Rick
authors.initials: R
authors.lastname: Gadzinski
authors.forename: Mike
authors.initials: M
authors.lastname: Storck
authors.forename: Kai
authors.initials: K
authors.lastname: Wang
authors.forename: Gi-Yung
authors.initials: GY
authors.lastname: Ryu
authors.forename: Shawn M
authors.initials: SM
authors.lastname: Jobe
authors.forename: Brian C
authors.initials: BC
authors.lastname: Schutte
authors.forename: Jack
authors.initials: J
authors.lastname: Moseley
authors.forename: Noeleen B
authors.initials: NB
authors.lastname: Loughran
authors.forename: John
authors.initials: J
authors.lastname: Parkinson
authors.forename: Andrew S
authors.initials: AS
authors.lastname: Weyrich
authors.forename: Jorge
authors.initials: J
authors.lastname: Di Paola
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D001792:Blood Platelets / Q000378:metabolism*; D001798:Blood Proteins / Q000235:genetics*; D003594:Cytoplasmic Granules / Q000378:metabolism*; D005260:Female; D055652:Gray Platelet Syndrome / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000037:antagonists & inhibitors / Q000235:genetics*; D010375:Pedigree; D010802:Phylogeny; D017422:Sequence Analysis, DNA; D017386:Sequence Homology, Amino Acid; D012689:Sequence Homology, Nucleic Acid
chemical_list: D001798:Blood Proteins; C561485:NBEAL2 protein, human; D009419:Nerve Tissue Proteins