C-terminal truncations in human 3'-5' 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 Schäfer, Anine H. Stam, Joost HaanPaulus 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

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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'-5' exonuclease. These truncated proteins retain exonuclease activity but lose normal perinuclear localization. These data have implications for the maintenance of vascular integrity in the degenerative cerebral microangiopathies leading to stroke and dementias
Original languageEnglish
Pages (from-to)1068-1070
JournalNature Genetics
Issue number9
Publication statusPublished - 2007

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