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.