Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

Cornelis Albers, Cedric Ghevaert and colleagues report that a majority of thrombocytopenia with absent radii (TAR) syndrome cases are caused by compound heterzygosity of a null allele and a low-frequency SNP in the regulatory regions of the RBM8A gene, which encodes the Y14 subunit of the exon-junction complex (EJC). TAR syndrome is the first reported human disorder caused by a defect in an EJC component.