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

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. WeyrichJorge Di Paola

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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 γ-granules.

Original languageEnglish
Pages (from-to)738-740
Number of pages3
JournalNature Genetics
Volume43
Issue number8
DOIs
StatePublished - Aug 2011
Externally publishedYes

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    Kahr, W. H. A., Hinckley, J., Li, L., Schwertz, H., Christensen, H., Rowley, J. W., Pluthero, F. G., Urban, D., Fabbro, S., Nixon, B., Gadzinski, R., Storck, M., Wang, K., Ryu, G. Y., Jobe, S. M., Schutte, B. C., Moseley, J., Loughran, N. B., Parkinson, J., ... Di Paola, J. (2011). Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. Nature Genetics, 43(8), 738-740. https://doi.org/10.1038/ng.884