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. Weyrich; Jorge Di Paola

doi:10.1038/ng.884

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 language	English
Pages (from-to)	738-740
Number of pages	3
Journal	Nature Genetics
Volume	43
Issue number	8
DOIs	https://doi.org/10.1038/ng.884
State	Published - Aug 2011

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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

@article{865b1fedb10e4f529906268754722738,

title = "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 γ-granules.",

author = "Kahr, {Walter H.A.} and Jesse Hinckley and Ling Li and Hansj{\"o}rg Schwertz and Hilary Christensen and Rowley, {Jesse W.} and Pluthero, {Fred G.} and Denisa Urban and Shay Fabbro and Brie Nixon and Rick Gadzinski and Mike Storck and Kai Wang and Ryu, {Gi Yung} and Jobe, {Shawn M.} and Schutte, {Brian C.} and Jack Moseley and Loughran, {Noeleen B.} and John Parkinson and Weyrich, {Andrew S.} and {Di Paola}, Jorge",

note = "Funding Information: We thank the families that participated in this study. This work was supported by grants from the US National Institutes of Health (NIH) to J.D.P. (NIH HL084086-01), A.S.W. (NIH HL066277 and HL091283), J.W.R. (NIH T32 HL105321), B.C.S. and G.-Y.R. (NIH UL1RR024979), the Canadian Institutes of Health Research to W.H.A.K. (MOP-81208), J.P. and N.B.L. (MOP-84556), and the American Heart Association to H.S. (AHA 09BG1A2250381). We thank R. Wong from the Diabetes and Endocrinology Research Center Molecular Biology Core at the University of Colorado–Denver for sequencing assistance (grant NIH P30DK57516), the Bioinformatics and Molecular Evolution Group, Dublin City University for the use of their computational facilities and D. Lim for preparing figures.",

year = "2011",

month = aug,

doi = "10.1038/ng.884",

language = "English",

volume = "43",

pages = "738--740",

journal = "Nature Genetics",

issn = "1061-4036",

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Kahr, WHA, Hinckley, J, Li, L, Schwertz, H, Christensen, H, Rowley, JW, Pluthero, FG, Urban, D, Fabbro, S, Nixon, B, Gadzinski, R, Storck, M, Wang, K, Ryu, GY, Jobe, SM, Schutte, BC, Moseley, J, Loughran, NB, Parkinson, J, Weyrich, AS & Di Paola, J 2011, 'Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome', Nature Genetics, vol. 43, no. 8, pp. 738-740. https://doi.org/10.1038/ng.884

TY - JOUR

T1 - Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome

AU - Kahr, Walter H.A.

AU - Hinckley, Jesse

AU - Li, Ling

AU - Schwertz, Hansjörg

AU - Christensen, Hilary

AU - Rowley, Jesse W.

AU - Pluthero, Fred G.

AU - Urban, Denisa

AU - Fabbro, Shay

AU - Nixon, Brie

AU - Gadzinski, Rick

AU - Storck, Mike

AU - Wang, Kai

AU - Ryu, Gi Yung

AU - Jobe, Shawn M.

AU - Schutte, Brian C.

AU - Moseley, Jack

AU - Loughran, Noeleen B.

AU - Parkinson, John

AU - Weyrich, Andrew S.

AU - Di Paola, Jorge

N1 - Funding Information: We thank the families that participated in this study. This work was supported by grants from the US National Institutes of Health (NIH) to J.D.P. (NIH HL084086-01), A.S.W. (NIH HL066277 and HL091283), J.W.R. (NIH T32 HL105321), B.C.S. and G.-Y.R. (NIH UL1RR024979), the Canadian Institutes of Health Research to W.H.A.K. (MOP-81208), J.P. and N.B.L. (MOP-84556), and the American Heart Association to H.S. (AHA 09BG1A2250381). We thank R. Wong from the Diabetes and Endocrinology Research Center Molecular Biology Core at the University of Colorado–Denver for sequencing assistance (grant NIH P30DK57516), the Bioinformatics and Molecular Evolution Group, Dublin City University for the use of their computational facilities and D. Lim for preparing figures.

PY - 2011/8

Y1 - 2011/8

N2 - 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.

AB - 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.

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U2 - 10.1038/ng.884

DO - 10.1038/ng.884

M3 - Article

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AN - SCOPUS:79960903114

SN - 1061-4036

VL - 43

SP - 738

EP - 740

JO - Nature Genetics

JF - Nature Genetics

IS - 8

ER -

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

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