Heterozygous Mutations in TREX1 Cause Familial Chilblain Lupus and Dominant Aicardi-Goutières Syndrome Gillian Rice, William G. Newman, John Dean, Teresa.

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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 The American Journal of Human Genetics Volume 80, Issue 4, Pages 811-815 (April 2007) DOI: 10.1086/513443 Copyright © 2007 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigree of the nonconsanguineous family showing vertical transmission of FCL (affected individuals are indicated by blackened symbols). Note that individual II:4 is clinically asymptomatic but carries the familial disease-causing mutation. The American Journal of Human Genetics 2007 80, 811-815DOI: (10.1086/513443) Copyright © 2007 The American Society of Human Genetics Terms and Conditions

Figure 2 Skin features observed in FCL-affected family. The lesions are quiescent at present, but there are residual areas of atrophic and hypopigmented skin. Previous ulcerations have led to a loss of ear cartilage and destruction of the PIP joints and distal toes. Note the tapering of the fingers, with tight, shiny skin. The American Journal of Human Genetics 2007 80, 811-815DOI: (10.1086/513443) Copyright © 2007 The American Society of Human Genetics Terms and Conditions

Figure 3 TREX1 exonuclease activity. Cell-free protein extracts were assayed for 3′ DNA exonuclease activity with a 3′ labeled poly(dA) substrate after partial purification by column chromatography on single-stranded DNA cellulose. GM0558 is a normal lymphoblastoid control. F39A is a lymphoblastoid cell line from a child with biallelic mutations in TREX1. The American Journal of Human Genetics 2007 80, 811-815DOI: (10.1086/513443) Copyright © 2007 The American Society of Human Genetics Terms and Conditions

Figure 4 Skin features seen in the child with AGS due to a de novo heterozygous D200N TREX1 mutation. Ulcerative lesions are seen at the ends of the toes and fingers, and there is a more generalized patchy mottling of the skin, seen here on the legs. The American Journal of Human Genetics 2007 80, 811-815DOI: (10.1086/513443) Copyright © 2007 The American Society of Human Genetics Terms and Conditions

Figure 5 Sequence electropherograms illustrating the de novo c.598G→A TREX1 mutation in the child affected with AGS. The American Journal of Human Genetics 2007 80, 811-815DOI: (10.1086/513443) Copyright © 2007 The American Society of Human Genetics Terms and Conditions