title: New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome.
abstract: 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.
authors.affiliation: Department of Haematology, University of Cambridge, Cambridge, UK. c.albers@gen.umcn.nl
authors.forename: Cornelis A
authors.initials: CA
authors.lastname: Albers
authors.forename: Ruth
authors.initials: R
authors.lastname: Newbury-Ecob
authors.forename: Willem H
authors.initials: WH
authors.lastname: Ouwehand
authors.forename: Cedric
authors.initials: C
authors.lastname: Ghevaert
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002872:Chromosome Deletion; D058674:Chromosome Duplication; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D000080984:Congenital Bone Marrow Failure Syndromes; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics*; D058627:Megalencephaly / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D011884:Radius / Q000473:pathology; D013921:Thrombocytopenia / Q000235:genetics* / Q000473:pathology; D038062:Upper Extremity Deformities, Congenital / Q000235:genetics* / Q000473:pathology