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Brief Communication

Nature Genetics 39, 1068–1070 (1 September 2007) | doi:10.1038/ng2082

C-terminal truncations in human 3|[prime]|-5|[prime]| DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy

Anna Richards , Arn M J M van den Maagdenberg , Joanna C Jen , David Kavanagh , Paula Bertram , Dirk Spitzer , M Kathryn Liszewski , Maria-Louise Barilla-LaBarca , Gisela M Terwindt , Yumi Kasai , Mike McLellan , Mark Gilbert Grand , Kaate R J Vanmolkot , Boukje de Vries , Jijun Wan , Michael J Kane , Hafsa Mamsa , Ruth Sch|[auml]|fer , Anine H Stam , Joost Haan , Paulus T V M de Jong , Caroline W Storimans , Mary J van Schooneveld , Jendo A Oosterhuis , Andreas Gschwendter , Martin Dichgans , Katya E Kotschet , Suzanne Hodgkinson , Todd A Hardy , Martin B Delatycki , Rula A Hajj-Ali , Parul H Kothari , Stanley F Nelson , Rune R Frants , Robert W Baloh , Michel D Ferrari & John P Atkinson

Autosomal dominant retinal vasculopathy with cerebral leukodystrophy is a microvascular endotheliopathy with middle-age onset. In nine families, we identified heterozygous C-terminal frameshift mutations in TREX1, which encodes a 3|[prime]|-5|[prime]| exonuclease.