NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules

Nat Genet. 2011 Jul 17;43(8):732-4. doi: 10.1038/ng.883.

Meral Gunay-Aygun ¹, Tzipora C Falik-Zaccai, Thierry Vilboux, Yifat Zivony-Elboum, Fatma Gumruk, Mualla Cetin, Morad Khayat, Cornelius F Boerkoel, Nehama Kfir, Yan Huang, Dawn Maynard, Heidi Dorward, Katherine Berger, Robert Kleta, Yair Anikster, Mutlu Arat, Andrew S Freiberg, Beate E Kehrel, Kerstin Jurk, Pedro Cruz, Jim C Mullikin, James G White, Marjan Huizing, William A Gahl

Affiliations

Affiliation

1 Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, US National Institutes of Health, Bethesda, Maryland, USA. mgaygun@mail.nih.gov

PMID: 21765412 DOI: 10.1038/ng.883

Abstract

Gray platelet syndrome (GPS) is an autosomal recessive bleeding disorder that is characterized by large platelets that lack α-granules. Here we show that mutations in NBEAL2 (neurobeachin-like 2), which encodes a BEACH/ARM/WD40 domain protein, cause GPS and that megakaryocytes and platelets from individuals with GPS express a unique combination of NBEAL2 transcripts. Proteomic analysis of sucrose-gradient subcellular fractions of platelets indicated that NBEAL2 localizes to the dense tubular system (endoplasmic reticulum) in platelets.

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