Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome

被引：188

作者：

Albers, Cornelis A. ^{[1
,2
]}

Cvejic, Ana ^{[1
,2
]}

Favier, Remi ^{[3
,4
]}

Bouwmans, Evelien E. ^{[2
]}

Alessi, Marie-Christine ^{[5
]}

Bertone, Paul ^{[6
]}

Jordan, Gregory ^{[6
]}

Kettleborough, Ross N. W. ^{[1
]}

Kiddle, Graham ^{[2
]}

Kostadima, Myrto ^{[6
]}

Read, Randy J. ^{[7
]}

Sipos, Botond ^{[6
]}

Sivapalaratnam, Suthesh ^{[8
]}

Smethurst, Peter A. ^{[2
]}

Stephens, Jonathan ^{[2
]}

Voss, Katrin ^{[2
]}

Nurden, Alan ^{[9
]}

Rendon, Augusto ^{[2
,10
]}

Nurden, Paquita ^{[9
]}

Ouwehand, Willem H. ^{[1
,2
]}

机构：

[1] Wellcome Trust Sanger Inst, Cambridge, England

[2] NHS Blood & Transplant, Cambridge, England

[3] Hop Armand Trousseau, AP HP, Dept Hematol, Ctr Reference Pathol Plaquettaires, Paris, France

[4] INSERM, U1009, Villejuif, France

[5] INSERM, U626, Fac Med, F-13258 Marseille, France

[6] European Bioinformat Inst, European Mol Biol Lab, Cambridge, England

[7] Univ Cambridge, Dept Haematol, Cambridge Inst Med Res, Cambridge, England

[8] Univ Amsterdam, Acad Med Ctr, Dept Vasc Med, NL-1105 AZ Amsterdam, Netherlands

[9] Hop Xavier Arnozan, Ctr Reference Pathol Plaquettaires, Hematol Lab, Pessac, France

[10] Inst Publ Hlth, Med Res Council Biostat Unit, Cambridge, England

来源：

NATURE GENETICS | 2011年 / 43卷 / 08期

基金：

英国医学研究理事会; 英国惠康基金;

关键词：

CHEDIAK-HIGASHI-SYNDROME;

D O I：

10.1038/ng.885

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Gray platelet syndrome (GPS) is a predominantly recessive platelet disorder that is characterized by mild thrombocytopenia with large platelets and a paucity of alpha-granules; these abnormalities cause mostly moderate but in rare cases severe bleeding. We sequenced the exomes of four unrelated individuals and identified NBEAL2 as the causative gene; it has no previously known function but is a member of a gene family that is involved in granule development. Silencing of nbeal2 in zebrafish abrogated thrombocyte formation.

引用

页码：735 / 737

页数：3

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