Severe Chilblain Lupus Is Associated with Heterozygous Missense Mutations of Catalytic Amino Acids or their Adjacent Mutations in the Exonuclease Domains.

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Severe Chilblain Lupus Is Associated with Heterozygous Missense Mutations of Catalytic Amino Acids or their Adjacent Mutations in the Exonuclease Domains of 3′- Repair Exonuclease 1 Kazumitsu Sugiura, Takuya Takeichi, Michihiro Kono, Yasuki Ito, Yasushi Ogawa, Yoshinao Muro, Masashi Akiyama Journal of Investigative Dermatology Volume 132, Issue 12, Pages 2855-2857 (December 2012) DOI: 10.1038/jid.2012.210 Copyright © 2012 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Skin manifestations, pathological tissue, family tree, and TREX1 DNA sequence data of the patient. (a, b) Chilblain lesions on the nose, cheeks, lips, hands, and fingertips of the patient. The patient provided written informed consent for publication of photographs. (c) Pathological tissue of left hand of the patient. In the upper dermis, the vessel walls appear dilated, and sparse perivascular lymphocytic infiltrations are observed. Basement membrane is thickened. Bar=50μm. (d) Family tree of the patient; arrow denotes the patient. Square represents male member, and circle represents female member; filled symbols indicate family members with clinical features of familial chilblain lupus. (e) Sequence data of TREX1 in the patient and control; arrow shows heterozygous mutation of 394C>G. Pt., patient; Cont., control. Journal of Investigative Dermatology 2012 132, 2855-2857DOI: (10.1038/jid.2012.210) Copyright © 2012 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 Diagram of TREX1, and alignment of DEDDh exonucleases and human heterozygous missense mutations in the catalytic domain of TREX1. (a) Diagram of TREX1. Exo represents exonuclease-conserved motifs, PII the polyproline II motif, and TMHD the transmembrane helix domain. Enzymes from the DEDDh 3′–5′exonuclease superfamily are characterized by five acidic residues (three aspartates (D), one glutamate (E), and one histidine (H)). (b) Sequence alignment of Exo II in TREX1. DEDDh motif is indicated in blue, and P132 is in red. (c) Human heterozygous missense mutation of TREX1 identified in the Exos. Black indicates mutations identified in AGS cases; blue indicates mutations in AGS and FCL cases; and purple indicates mutations in neuropsychiatric systemic lupus erythematosus. Red indicates the present case of familial chilblain lupus. All patients have severe chilblain lupus. Journal of Investigative Dermatology 2012 132, 2855-2857DOI: (10.1038/jid.2012.210) Copyright © 2012 The Society for Investigative Dermatology, Inc Terms and Conditions