2. Academic Validation
  3. Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome

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

Affiliation

  • 1 Department of Paediatrics, University of Toronto, Division of Haematology/Oncology, The Hospital for Sick Children, Toronto, Ontario, Canada. walter.kahr@sickkids.ca
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.

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