Article
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.
Nature genetics - 26 Feb 2012
Albers Cornelis A, Paul Dirk S, Schulze Harald, Freson Kathleen, Stephens Jonathan C, Smethurst Peter A, Jolley Jennifer D, Cvejic Ana, Kostadima Myrto, Bertone Paul, Breuning Martijn H, Debili Najet, Deloukas Panos, Favier Rémi, Fiedler Janine, Hobbs Catherine M, Huang Ni, Hurles Matthew E, Kiddle Graham, Krapels Ingrid, Nurden Paquita, Ruivenkamp Claudia A L, Sambrook Jennifer G, Smith Kenneth, Stemple Derek L, Strauss Gabriele, Thys Chantal, van Geet Chris, Newbury-Ecob Ruth, Ouwehand Willem H, Ghevaert Cedric
Abstract excerpt
The exon-junction complex (EJC) performs essential RNA processing tasks. Here, we describe the first human disorder, thrombocytopenia with absent radii (TAR), caused by deficiency in one of the four EJC subunits. Compound inheritance of a rare null allele and one of two low-frequency SNPs in the regulatory regions of RBM8A, encoding the Y14 subunit of EJC, causes TAR. We found that this inheritance mechanism...
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