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

Ferrari Md; Atkinson Jp; Richards A; Van Den Maagdenberg Am; Jen Jc; Kavanagh D; Bertram P; Spitzer D; Liszewski Mk; Barilla-Labarca Ml; Terwindt Gm; Kasai Y; Mclellan M; Grand Mg; Vanmolkot Kr; De Vries B; Wan J; Kane Mj; Mamsa H; Schäfer R; Stam Ah; Haan J; De Jong Pt; 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

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

Authors

Md, Ferrari
Jp, Atkinson
A, Richards
Am, Van Den Maagdenberg
Jc, Jen
D, Kavanagh
P, Bertram
D, Spitzer
Mk, Liszewski
Ml, Barilla-Labarca
Gm, Terwindt
Y, Kasai
M, Mclellan
Mg, Grand
Kr, Vanmolkot
B, De Vries
J, Wan
Mj, Kane
H, Mamsa
R, Schäfer
Ah, Stam
J, Haan
Pt, De Jong
Cw, Storimans
Mj, Van Schooneveld
Ja, Oosterhuis
A, Gschwendter
M, Dichgans
Ke, Kotschet
S, Hodgkinson
Ta, Hardy
Mb, Delatycki
Ra, Hajj-Ali
Ph, Kothari
Stanley F. Nelson
Rr, Frants
Rw, Baloh

And 17 more

Type

Published Article

Journal

Nature Genetics

Publisher

Springer Nature

Volume

39

Issue

9

Pages

1068–1070

Source

Nelson Lab

License

Unknown

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.

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