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

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

Journal article

Open access

Peer reviewed

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, …

Nature genetics, Vol.43(8), pp.738-740

07/17/2011

DOI: 10.1038/ng.884

PMCID: PMC6050511

PMID: 21765413

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https://www.ncbi.nlm.nih.gov/pmc/articles/6050511View

Open Access

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 α-granules.

Amino Acid Sequence

Nerve Tissue Proteins - antagonists & inhibitors

Humans

Gray Platelet Syndrome - genetics

Molecular Sequence Data

Male

Phylogeny

Nerve Tissue Proteins - genetics

Sequence Analysis, DNA

Sequence Homology, Nucleic Acid

Sequence Homology, Amino Acid

Blood Platelets - metabolism

Blood Proteins - genetics

Pedigree

Base Sequence

Cytoplasmic Granules - metabolism

Female

Details

Title: Subtitle: Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome
Creators: Walter H A Kahr - Department of Paediatrics, University of Toronto, Division of Haematology/Oncology, The Hospital for Sick Children, Toronto, Ontario, Canada. walter.kahr@sickkids.ca
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
Resource Type: Journal article
Publication Details: Nature genetics, Vol.43(8), pp.738-740
DOI: 10.1038/ng.884
PMID: 21765413
PMCID: PMC6050511
NLM abbreviation: Nat Genet
ISSN: 1546-1718
eISSN: 1546-1718
Publisher: United States
Grant note: HL091283 / NHLBI NIH HHS HL066277 / NHLBI NIH HHS R21 HL091283 / NHLBI NIH HHS MOP-84556 / Canadian Institutes of Health Research P30 DK057516 / NIDDK NIH HHS P30DK57516 / NIDDK NIH HHS UL1RR024979 / NCRR NIH HHS R01 HL066277 / NHLBI NIH HHS MOP-81208 / Canadian Institutes of Health Research T32 HL105321 / NHLBI NIH HHS UL1 RR024979 / NCRR NIH HHS HL084086-01 / NHLBI NIH HHS R01 HL084086 / NHLBI NIH HHS
Language: English
Date published: 07/17/2011
Academic Unit: ICTS - Biomedical Informatics; Biostatistics
Record Identifier: 9983997356502771

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