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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 ?-granules.

SUBMITTER: Kahr WH

PROVIDER: S-EPMC6050511 | biostudies-literature | 2011 Jul

REPOSITORIES: biostudies-literature

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

Kahr Walter H A WH Hinckley Jesse J Li Ling L Schwertz Hansjörg H Christensen Hilary H Rowley Jesse W JW Pluthero Fred G FG Urban Denisa D Fabbro Shay S Nixon Brie B Gadzinski Rick R Storck Mike M Wang Kai K Ryu Gi-Yung GY Jobe Shawn M SM Schutte Brian C BC Moseley Jack J Loughran Noeleen B NB Parkinson John J Weyrich Andrew S AS Di Paola Jorge J

Nature genetics 20110717 8

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-granul ...[more]

PMID: 21765413

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