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 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

doi:https://doi.org/10.1038/ng2082

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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Abstract

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 language	English
Pages (from-to)	1068-1070
Journal	Nature Genetics
Volume	39
Issue number	9
DOIs	https://doi.org/10.1038/ng2082
Publication status	Published - 2007

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Richards, A., van den Maagdenberg, A. M. J. M., Jen, J. C., Kavanagh, D., Bertram, P., Spitzer, D., Liszewski, M. K., Barilla-LaBarca, M.-L., Terwindt, G. M., Kasai, Y., McLellan, M., Grand, M. G., Vanmolkot, K. R. J., de Vries, B., Wan, J., Kane, M. J., Mamsa, H., Schäfer, R., Stam, A. H., ... Atkinson, J. P. (2007). C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. Nature Genetics, 39(9), 1068-1070. https://doi.org/10.1038/ng2082

@article{3017e3e91f0c47c98307bedf07d20501,

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

abstract = "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",

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

year = "2007",

doi = "https://doi.org/10.1038/ng2082",

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Richards, A, van den Maagdenberg, AMJM, Jen, JC, Kavanagh, D, Bertram, P, Spitzer, D, Liszewski, MK, Barilla-LaBarca, M-L, Terwindt, GM, Kasai, Y, McLellan, M, Grand, MG, Vanmolkot, KRJ, de Vries, B, Wan, J, Kane, MJ, Mamsa, H, Schäfer, R, Stam, AH, Haan, J, de Jong, PTVM, Storimans, CW, van Schooneveld, MJ, Oosterhuis, JA, Gschwendter, A, Dichgans, M, Kotschet, KE, Hodgkinson, S, Hardy, TA, Delatycki, MB, Hajj-Ali, RA, Kothari, PH, Nelson, SF, Frants, RR, Baloh, RW, Ferrari, MD & Atkinson, JP 2007, 'C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy', Nature Genetics, vol. 39, no. 9, pp. 1068-1070. https://doi.org/10.1038/ng2082

TY - JOUR

T1 - C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy

AU - Richards, Anna

AU - van den Maagdenberg, Arn M. J. M.

AU - Jen, Joanna C.

AU - Kavanagh, David

AU - Bertram, Paula

AU - Spitzer, Dirk

AU - Liszewski, M. Kathryn

AU - Barilla-LaBarca, Maria-Louise

AU - Terwindt, Gisela M.

AU - Kasai, Yumi

AU - McLellan, Mike

AU - Grand, Mark Gilbert

AU - Vanmolkot, Kaate R. J.

AU - de Vries, Boukje

AU - Wan, Jijun

AU - Kane, Michael J.

AU - Mamsa, Hafsa

AU - Schäfer, Ruth

AU - Stam, Anine H.

AU - Haan, Joost

AU - de Jong, Paulus T. V. M.

AU - Storimans, Caroline W.

AU - van Schooneveld, Mary J.

AU - Oosterhuis, Jendo A.

AU - Gschwendter, Andreas

AU - Dichgans, Martin

AU - Kotschet, Katya E.

AU - Hodgkinson, Suzanne

AU - Hardy, Todd A.

AU - Delatycki, Martin B.

AU - Hajj-Ali, Rula A.

AU - Kothari, Parul H.

AU - Nelson, Stanley F.

AU - Frants, Rune R.

AU - Baloh, Robert W.

AU - Ferrari, Michel D.

AU - Atkinson, John P.

PY - 2007

Y1 - 2007

N2 - 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

AB - 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

U2 - https://doi.org/10.1038/ng2082

DO - https://doi.org/10.1038/ng2082

M3 - Article

C2 - 17660820

SN - 1061-4036

VL - 39

SP - 1068

EP - 1070

JO - Nature Genetics

JF - Nature Genetics

IS - 9

ER -