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.

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Blood Platelets / metabolism*
  • Blood Proteins / genetics*
  • Cytoplasmic Granules / metabolism*
  • Female
  • Gray Platelet Syndrome / genetics*
  • Humans
  • Male
  • Molecular Sequence Data
  • Nerve Tissue Proteins / antagonists & inhibitors
  • Nerve Tissue Proteins / genetics*
  • Pedigree
  • Phylogeny
  • Sequence Analysis, DNA
  • Sequence Homology, Amino Acid
  • Sequence Homology, Nucleic Acid

Substances

  • Blood Proteins
  • NBEAL2 protein, human
  • Nerve Tissue Proteins