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

被引：181

作者：

Kahr, Walter H. A. ^{[1
,2
,3
]}

Hinckley, Jesse ^{[4
,5
]}

Li, Ling ^{[2
]}

Schwertz, Hansjorg ^{[6
]}

Christensen, Hilary ^{[2
]}

Rowley, Jesse W. ^{[7
,8
]}

Pluthero, Fred G. ^{[2
]}

Urban, Denisa ^{[2
,3
]}

Fabbro, Shay ^{[4
,5
]}

Nixon, Brie ^{[4
,5
]}

Gadzinski, Rick ^{[9
]}

Storck, Mike ^{[9
]}

Wang, Kai ^{[10
]}

Ryu, Gi-Yung ^{[11
]}

Jobe, Shawn M. ^{[12
,13
,14
]}

Schutte, Brian C. ^{[15
]}

Moseley, Jack ^{[16
]}

Loughran, Noeleen B. ^{[17
]}

Parkinson, John ^{[17
]}

Weyrich, Andrew S. ^{[7
,8
]}

Di Paola, Jorge ^{[4
,5
]}

机构：

[1] Univ Toronto, Hosp Sick Children, Dept Paediat, Div Haematol Oncol, Toronto, ON M5G 1X8, Canada

[2] Hosp Sick Children, Cell Biol Program, Toronto, ON M5G 1X8, Canada

[3] Univ Toronto, Dept Biochem, Toronto, ON, Canada

[4] Univ Colorado Denver, Dept Pediat, Aurora, CO USA

[5] Univ Colorado Denver, Human Med Genet Program, Aurora, CO USA

[6] Univ Utah, Dept Surg, Div Vasc Surg, Salt Lake City, UT USA

[7] Univ Utah, Program Mol Med, Eccles Inst Human Genet, Salt Lake City, UT USA

[8] Univ Utah, Dept Internal Med, Eccles Inst Human Genet, Salt Lake City, UT 84112 USA

[9] Funct Biosci, Madison, WI USA

[10] Univ Iowa, Coll Publ Hlth, Dept Biostat, Iowa City, IA USA

[11] Univ Iowa, Inst Clin & Translat Sci, Iowa City, IA USA

[12] Childrens Healthcare Atlanta, Aflac Canc Ctr, Atlanta, GA USA

[13] Childrens Healthcare Atlanta, Blood Disorders Serv, Atlanta, GA USA

[14] Emory Univ, Atlanta, GA 30322 USA

[15] Michigan State Univ, Dept Microbiol & Mol Genet, E Lansing, MI 48824 USA

[16] No Oklahoma Resource Ctr, Enid, OK USA

[17] Univ Toronto, Hosp Sick Children, Dept Biochem & Mol & Med Genet, Program Mol Struct & Funct, Toronto, ON M5G 1X8, Canada

来源：

NATURE GENETICS | 2011年 / 43卷 / 08期

基金：

加拿大健康研究院; 美国国家卫生研究院;

关键词：

CHEDIAK-HIGASHI-SYNDROME; IDENTIFICATION; DOMAINS;

D O I：

10.1038/ng.884

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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 alpha-granules.

引用

页码：738 / 740

页数：3

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