Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome

  • Nat Genet. 2011 Jul 17;43(8):738-40. doi: 10.1038/ng.884.
Walter H A Kahr  1 ,  Jesse Hinckley ,  Ling Li ,  Hansjörg Schwertz ,  Hilary Christensen ,  Jesse W Rowley ,  Fred G Pluthero ,  Denisa Urban ,  Shay Fabbro ,  Brie Nixon ,  Rick Gadzinski ,  Mike Storck ,  Kai Wang ,  Gi-Yung Ryu ,  Shawn M Jobe ,  Brian C Schutte ,  Jack Moseley ,  Noeleen B Loughran ,  John Parkinson ,  Andrew S Weyrich ,  Jorge Di Paola
Affiliations
  • 1. Department of Paediatrics, University of Toronto, Division of Haematology/Oncology, The Hospital for Sick Children, Toronto, Ontario, Canada. [email protected]
PMID: 21765413 DOI: 10.1038/ng.884
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.