Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutières syndrome

Gillian Rice; William G. Newman; John Dean; Teresa Patrick; Rekha Parmar; Kim Flintoff; Peter Robins; Scott Harvey; Thomas Hollis; Ann O'Hara; Ariane L. Herrick; Andrew P. Bowden; Fred W. Perrino; Tomas Lindahl; Deborah E. Barnes; Yanick J. Crow

doi:10.1086/513443

Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutières syndrome

Gillian Rice
, William G. Newman
, John Dean
, Teresa Patrick
, Rekha Parmar
, Kim Flintoff
, Peter Robins
, Scott Harvey
, Thomas Hollis
, Ann O'Hara
, Ariane L. Herrick
, Andrew P. Bowden
, Fred W. Perrino
, Tomas Lindahl
, Deborah E. Barnes
, Yanick J. Crow

Research output: Contribution to journal › Article › peer-review

Abstract

TREX1 constitutes the major 3′→5′ DNA exonuclease activity measured in mammalian cells. Recently, biallelic mutations in TREX1 have been shown to cause Aicardi-Goutières syndrome at the AGS1 locus. Interestingly, Aicardi-Goutières syndrome shows overlap with systemic lupus erythematosus at both clinical and pathological levels. Here, we report a heterozygous TREX1 mutation causing familial chilblain lupus. Additionally, we describe a de novo heterozygous mutation, affecting a critical catalytic residue in TREX1, that results in typical Aicardi-Goutières syndrome. © 2007 by The American Society of Human Genetics. All rights reserved.

Original language	English
Pages (from-to)	811-815
Number of pages	4
Journal	American Journal of Human Genetics
Volume	80
Issue number	4
DOIs	https://doi.org/10.1086/513443
Publication status	Published - Apr 2007

Keywords

complications: Basal Ganglia Diseases
Base Sequence
Cell Line
genetics: Exodeoxyribonucleases
Female
Genetic Predisposition to Disease
Humans
complications: Lupus Erythematosus, Systemic
Male
Molecular Sequence Data
genetics: Mutation
Pedigree
genetics: Phosphoproteins
Sequence Analysis, DNA
Syndrome

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10.1086/513443

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Rice, G., Newman, W. G., Dean, J., Patrick, T., Parmar, R., Flintoff, K., Robins, P., Harvey, S., Hollis, T., O'Hara, A., Herrick, A. L., Bowden, A. P., Perrino, F. W., Lindahl, T., Barnes, D. E., & Crow, Y. J. (2007). Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutières syndrome. American Journal of Human Genetics, 80(4), 811-815. https://doi.org/10.1086/513443

@article{bb4c713ecbac4872b57d5a8ace54f34b,

title = "Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Gouti{\`e}res syndrome",

abstract = "TREX1 constitutes the major 3′→5′ DNA exonuclease activity measured in mammalian cells. Recently, biallelic mutations in TREX1 have been shown to cause Aicardi-Gouti{\`e}res syndrome at the AGS1 locus. Interestingly, Aicardi-Gouti{\`e}res syndrome shows overlap with systemic lupus erythematosus at both clinical and pathological levels. Here, we report a heterozygous TREX1 mutation causing familial chilblain lupus. Additionally, we describe a de novo heterozygous mutation, affecting a critical catalytic residue in TREX1, that results in typical Aicardi-Gouti{\`e}res syndrome. {\textcopyright} 2007 by The American Society of Human Genetics. All rights reserved.",

keywords = "complications: Basal Ganglia Diseases, Base Sequence, Cell Line, genetics: Exodeoxyribonucleases, Female, Genetic Predisposition to Disease, Humans, complications: Lupus Erythematosus, Systemic, Male, Molecular Sequence Data, genetics: Mutation, Pedigree, genetics: Phosphoproteins, Sequence Analysis, DNA, Syndrome",

author = "Gillian Rice and Newman, \{William G.\} and John Dean and Teresa Patrick and Rekha Parmar and Kim Flintoff and Peter Robins and Scott Harvey and Thomas Hollis and Ann O'Hara and Herrick, \{Ariane L.\} and Bowden, \{Andrew P.\} and Perrino, \{Fred W.\} and Tomas Lindahl and Barnes, \{Deborah E.\} and Crow, \{Yanick J.\}",

year = "2007",

month = apr,

doi = "10.1086/513443",

language = "English",

volume = "80",

pages = "811--815",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "4",

}

Rice, G , Newman, WG, Dean, J, Patrick, T, Parmar, R, Flintoff, K, Robins, P, Harvey, S, Hollis, T, O'Hara, A, Herrick, AL, Bowden, AP, Perrino, FW, Lindahl, T, Barnes, DE & Crow, YJ 2007, 'Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutières syndrome', American Journal of Human Genetics, vol. 80, no. 4, pp. 811-815. https://doi.org/10.1086/513443

TY - JOUR

T1 - Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutières syndrome

AU - Rice, Gillian

AU - Newman, William G.

AU - Dean, John

AU - Patrick, Teresa

AU - Parmar, Rekha

AU - Flintoff, Kim

AU - Robins, Peter

AU - Harvey, Scott

AU - Hollis, Thomas

AU - O'Hara, Ann

AU - Herrick, Ariane L.

AU - Bowden, Andrew P.

AU - Perrino, Fred W.

AU - Lindahl, Tomas

AU - Barnes, Deborah E.

AU - Crow, Yanick J.

PY - 2007/4

Y1 - 2007/4

N2 - TREX1 constitutes the major 3′→5′ DNA exonuclease activity measured in mammalian cells. Recently, biallelic mutations in TREX1 have been shown to cause Aicardi-Goutières syndrome at the AGS1 locus. Interestingly, Aicardi-Goutières syndrome shows overlap with systemic lupus erythematosus at both clinical and pathological levels. Here, we report a heterozygous TREX1 mutation causing familial chilblain lupus. Additionally, we describe a de novo heterozygous mutation, affecting a critical catalytic residue in TREX1, that results in typical Aicardi-Goutières syndrome. © 2007 by The American Society of Human Genetics. All rights reserved.

AB - TREX1 constitutes the major 3′→5′ DNA exonuclease activity measured in mammalian cells. Recently, biallelic mutations in TREX1 have been shown to cause Aicardi-Goutières syndrome at the AGS1 locus. Interestingly, Aicardi-Goutières syndrome shows overlap with systemic lupus erythematosus at both clinical and pathological levels. Here, we report a heterozygous TREX1 mutation causing familial chilblain lupus. Additionally, we describe a de novo heterozygous mutation, affecting a critical catalytic residue in TREX1, that results in typical Aicardi-Goutières syndrome. © 2007 by The American Society of Human Genetics. All rights reserved.

KW - complications: Basal Ganglia Diseases

KW - Base Sequence

KW - Cell Line

KW - genetics: Exodeoxyribonucleases

KW - Female

KW - Genetic Predisposition to Disease

KW - Humans

KW - complications: Lupus Erythematosus, Systemic

KW - Male

KW - Molecular Sequence Data

KW - genetics: Mutation

KW - Pedigree

KW - genetics: Phosphoproteins

KW - Sequence Analysis, DNA

KW - Syndrome

U2 - 10.1086/513443

DO - 10.1086/513443

M3 - Article

C2 - 17357087

SN - 0002-9297

VL - 80

SP - 811

EP - 815

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 4

ER -

Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutières syndrome

Abstract

Keywords

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