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: Walter H A Kahr, 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
• Journal: Nature genetics (Nat Genet) Vol. 43 Issue 8 Pg. 738-40 (Jul 17 2011) ISSN: 1546-1718 [Electronic] United States
• PMID: 21765413 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)

Chemical References

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

Topics

• 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, genetics)
• Pedigree
• Phylogeny
• Sequence Analysis, DNA
• Sequence Homology, Amino Acid
• Sequence Homology, Nucleic Acid