C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy

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

Publikováno v: Nature Genetics, 39(9), 1068-1070. Nature Publishing Group
Nature genetics, 39(9), 1068-1070. Nature Publishing Group

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.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7304e32bdf45a345c07f7ac2dcfc7395
https://doi.org/10.1038/ng2082