Heterozygous Mutations In TREX1 Cause Familial Chilblain Lupus And Dominant Aicardi-Goutières Syndrome (Abstract)

Published in: American Journal of Human Genetics, 80:811-815, 2007.

Authors:
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, and Yanick J. Crow

Contact Author:
Yanick J. Crow, Leeds Institute of Molecular Medicine, St James's University Hospital, Leeds, United Kingdom, and Department of Paediatrics, St Luke's Hospital, Bradford, United Kingdom

Abstract:

TREX1 constitutes the major 35 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.

(C) American Journal of Human Genetics.

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