New insights into the genetic basis of TAR (thrombocytopenia absent radii) syndrome

被引：57

作者：

Albers, Cornelis A. ^{[1
,2
,3
]}

Newbury-Ecob, Ruth ^{[4
]}

Ouwehand, Willem H. ^{[1
,2
,3
]}

Ghevaert, Cedric ^{[1
,2
]}

机构：

[1] Univ Cambridge, Dept Haematol, Cambridge CB2 1TN, England

[2] NHS Blood & Transplant, Cambridge, England

[3] Wellcome Trust Sanger Inst, Cambridge, England

[4] Univ Hosp, Dept Clin Genet, Bristol, Avon, England

来源：

CURRENT OPINION IN GENETICS & DEVELOPMENT | 2013年 / 23卷 / 03期

关键词：

COPY-NUMBER VARIATION; AMEGAKARYOCYTIC THROMBOCYTOPENIA; DEFECTIVE MEGAKARYOCYTOPOIESIS; CONGENITAL THROMBOCYTOPENIA; DIGENIC INHERITANCE; GENOMIC DISORDERS; CHROMOSOME; 1Q21.1; THROMBOPOIETIN; DELETION; MUTATION;

D O I：

10.1016/j.gde.2013.02.015

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Thrombocytopenia with absent radii (TAR) syndrome is a rare disorder combining specific skeletal abnormalities with a reduced platelet count. Rare proximal microdeletions of 1q21.1 are found in the majority of patients but are also found in unaffected parents. Recently it was shown that TAR syndrome is caused by the compound inheritance of a low-frequency noncoding SNP and a rare null allele in RBM8A, a gene encoding the exon-junction complex subunit member Y14 located in the deleted region. This finding provides new insight into the complex inheritance pattern and new clues to the molecular mechanisms underlying TAR syndrome. We discuss TAR syndrome in the context of abnormal phenotypes associated with proximal and distal 1q21.1 microdeletion and microduplications with incomplete penetrance and variable expressivity.

引用

页码：316 / 323

页数：8

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