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

WHA Kahr, J Hinckley, L Li, H Schwertz… - Nature …, 2011 - nature.com
WHA Kahr, J Hinckley, L Li, H Schwertz, H Christensen, JW Rowley, FG Pluthero, D Urban…
Nature genetics, 2011nature.com
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.
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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