View Item 

Show simple item record

Genome‐wide linkage analysis and whole‐exome sequencing identifies an ITGA2B mutation in a family with thrombocytopenia

dc.contributor.authorKhoriaty, Rami
dc.contributor.authorOzel, Ayse B.
dc.contributor.authorRamdas, Shweta
dc.contributor.authorRoss, Charles
dc.contributor.authorDesch, Karl
dc.contributor.authorShavit, Jordan A.
dc.contributor.authorEverett, Lesley
dc.contributor.authorSiemieniak, David
dc.contributor.authorLi, Jun Z.
dc.contributor.authorGinsburg, David
dc.date.accessioned2019-08-09T17:13:36Z
dc.date.availableWITHHELD_13_MONTHS
dc.date.available2019-08-09T17:13:36Z
dc.date.issued2019-08
dc.identifier.citationKhoriaty, Rami; Ozel, Ayse B.; Ramdas, Shweta; Ross, Charles; Desch, Karl; Shavit, Jordan A.; Everett, Lesley; Siemieniak, David; Li, Jun Z.; Ginsburg, David (2019). "Genome‐wide linkage analysis and whole‐exome sequencing identifies an ITGA2B mutation in a family with thrombocytopenia." British Journal of Haematology 186(4): 574-579.
dc.identifier.issn0007-1048
dc.identifier.issn1365-2141
dc.identifier.urihttps://hdl.handle.net/2027.42/150531
dc.publisherMcGraw‐Hill Education
dc.publisherWiley Periodicals, Inc.
dc.subject.otherhereditary thrombocytopenia
dc.subject.otherlinkage analysis
dc.subject.otherwhole exome sequencing
dc.subject.otherITGA2B
dc.subject.otherautosomal dominant thrombocytopenia
dc.titleGenome‐wide linkage analysis and whole‐exome sequencing identifies an ITGA2B mutation in a family with thrombocytopenia
dc.typeArticle
dc.rights.robotsIndexNoFollow
dc.subject.hlbsecondlevelOncology and Hematology
dc.subject.hlbtoplevelHealth Sciences
dc.description.peerreviewedPeer Reviewed
dc.description.bitstreamurlhttps://deepblue.lib.umich.edu/bitstream/2027.42/150531/1/bjh15961_am.pdf
dc.description.bitstreamurlhttps://deepblue.lib.umich.edu/bitstream/2027.42/150531/2/bjh15961.pdf
dc.description.bitstreamurlhttps://deepblue.lib.umich.edu/bitstream/2027.42/150531/3/bjh15961-sup-0001-DataS1.pdf
dc.identifier.doi10.1111/bjh.15961
dc.identifier.sourceBritish Journal of Haematology
dc.identifier.citedreferenceBluteau, D., Balduini, A., Balayn, N., Currao, M., Nurden, P., Deswarte, C., Leverger, G., Noris, P., Perrotta, S., Solary, E., Vainchenker, W., Debili, N., Favier, R. & Raslova, H. ( 2014 ) Thrombocytopenia‐associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation. The Journal of Clinical Investigation, 124, 580 – 591.
dc.identifier.citedreferenceGhevaert, C., Salsmann, A., Watkins, N.A., Schaffner‐Reckinger, E., Rankin, A., Garner, S.F., Stephens, J., Smith, G.A., Debili, N., Vainchenker, W., de Groot, P.G., Huntington, J.A., Laffan, M., Kieffer, N. & Ouwehand, W.H. ( 2008 ) A nonsynonymous SNP in the ITGB3 gene disrupts the conserved membrane‐proximal cytoplasmic salt bridge in the alphaIIbbeta3 integrin and cosegregates dominantly with abnormal proplatelet formation and macrothrombocytopenia. Blood, 111, 3407 – 3414.
dc.identifier.citedreferenceGresele, P., Falcinelli, E., Giannini, S., D’Adamo, P., D’Eustacchio, A., Corazzi, T., Mezzasoma, A.M., Di Bari, F., Guglielmini, G., Cecchetti, L., Noris, P., Balduini, C.L. & Savoia, A. ( 2009 ) Dominant inheritance of a novel integrin beta3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian families. Haematologica, 94, 663 – 669.
dc.identifier.citedreferenceHardisty, R., Pidard, D., Cox, A., Nokes, T., Legrand, C., Bouillot, C., Pannocchia, A., Heilmann, E., Hourdille, P. & Bellucci, S. ( 1992 ) A defect of platelet aggregation associated with an abnormal distribution of glycoprotein IIb‐IIIa complexes within the platelet: the cause of a lifelong bleeding disorder. Blood, 80, 696 – 708.
dc.identifier.citedreferenceKashiwagi, H., Kunishima, S., Kiyomizu, K., Amano, Y., Shimada, H., Morishita, M., Kanakura, Y. & Tomiyama, Y. ( 2013 ) Demonstration of novel gain‐of‐function mutations of alphaIIbbeta3: association with macrothrombocytopenia and glanzmann thrombasthenia‐like phenotype. Molecular Genetics & Genomic Medicine, 1, 77 – 86.
dc.identifier.citedreferenceKunishima, S., Kashiwagi, H., Otsu, M., Takayama, N., Eto, K., Onodera, M., Miyajima, Y., Takamatsu, Y., Suzumiya, J., Matsubara, K., Tomiyama, Y. & Saito, H. ( 2011 ) Heterozygous ITGA2B R995W mutation inducing constitutive activation of the alphaIIbbeta3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia. Blood, 117, 5479 – 5484.
dc.identifier.citedreferenceTomberg, K., Khoriaty, R., Westrick, R.J., Fairfield, H.E., Reinholdt, L.G., Brodsky, G.L., Davizon‐Castillo, P., Ginsburg, D. & Di Paola, J. ( 2016 ) Spontaneous 8 bp deletion in Nbeal2 recapitulates the gray platelet syndrome in mice. PLoS One, 11, e0150852.
dc.identifier.citedreferenceSivapalaratnam, S., Westbury, S.K., Stephens, J.C., Greene, D., Downes, K., Kelly, A.M., Lentaigne, C., Astle, W.J., Huizinga, E.G., Nurden, P., Papadia, S., Peerlinck, K., Penkett, C.J., Perry, D.J., Roughley, C., Simeoni, I., Stirrups, K., Hart, D.P., Tait, R.C., Mumford, A.D., BioResource, N., Laffan, M.A., Freson, K., Ouwehand, W.H., Kunishima, S. & Turro, E. ( 2017 ) Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia. Blood, 129, 520 – 524.
dc.identifier.citedreferenceRowley, J.W., Oler, A.J., Tolley, N.D., Hunter, B.N., Low, E.N., Nix, D.A., Yost, C.C., Zimmerman, G.A. & Weyrich, A.S. ( 2011 ) Genome‐wide RNA‐seq analysis of human and mouse platelet transcriptomes. Blood, 118, e101 – e111.
dc.identifier.citedreferenceRao, A.K. & Coller, B.S. ( 2014 ) Hereditary quantitative platelet disorders. In: Williams Hematology (ed. by K. Kaushansky, M.A. Lichtman, J.T. Prchal, M.M. Levi, O.W. Press, L.J. Burns & M.A. Caligiuri ), 9th edn. McGraw‐Hill Education, New York, NY.
dc.identifier.citedreferenceRahbari, R., Wuster, A., Lindsay, S.J., Hardwick, R.J., Alexandrov, L.B., Al Turki, S., Dominiczak, A., Morris, A., Porteous, D., Smith, B., Stratton, M.R.; UK10K Consortium & Hurles, M.E. ( 2016 ) Timing, rates and spectra of human germline mutation. Nature Genetics, 48, 126 – 133.
dc.identifier.citedreferencePippucci, T., Savoia, A., Perrotta, S., Pujol‐Moix, N., Noris, P., Castegnaro, G., Pecci, A., Gnan, C., Punzo, F., Marconi, C., Gherardi, S., Loffredo, G., De Rocco, D., Scianguetta, S., Barozzi, S., Magini, P., Bozzi, V., Dezzani, L., Di Stazio, M., Ferraro, M., Perini, G., Seri, M. & Balduini, C.L. ( 2011 ) Mutations in the 5′ UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal‐dominant form of inherited thrombocytopenia, THC2. American Journal of Human Genetics, 88, 115 – 120.
dc.identifier.citedreferencePeyruchaud, O., Nurden, A.T., Milet, S., Macchi, L., Pannochia, A., Bray, P.F., Kieffer, N. & Bourre, F. ( 1998 ) R to Q amino acid substitution in the GFFKR sequence of the cytoplasmic domain of the integrin IIb subunit in a patient with a Glanzmann’s thrombasthenia‐like syndrome. Blood, 92, 4178 – 4187.
dc.identifier.citedreferenceNurden, A.T., Fiore, M., Nurden, P. & Pillois, X. ( 2011 ) Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models. Blood, 118, 5996 – 6005.
dc.identifier.citedreferenceBalduini, C.L. & Savoia, A. ( 2012 ) Genetics of familial forms of thrombocytopenia. Human Genetics, 131, 1821 – 1832.
dc.owningcollnameInterdisciplinary and Peer-Reviewed


Files in this item

Name:
bjh15961_am.pdf
Size:
828.5KB
Format:
PDF
View/Open
Name:
bjh15961.pdf
Size:
1.032MB
Format:
PDF
View/Open
Name:
bjh15961-sup-0001-DataS1.pdf
Size:
123.0KB
Format:
PDF
View/Open

Show simple item record

Remediation of Harmful Language

The University of Michigan Library aims to describe library materials in a way that respects the people and communities who create, use, and are represented in our collections. Report harmful or offensive language in catalog records, finding aids, or elsewhere in our collections anonymously through our metadata feedback form. More information at Remediation of Harmful Language.

Accessibility

If you are unable to use this file in its current format, please select the Contact Us link and we can modify it to make it more accessible to you.