title: Inflammatory myopathy in a patient with Aicardi-Goutières syndrome.
abstract: Aicardi-Goutières syndrome (AGS) is an inflammatory disorder belonging to the recently characterized group of type I interferonopathies. The most consistently affected tissues in AGS are the central nervous system and skin, but various organ systems and tissues have been reported to be affected, pointing to the systemic nature of the disease. Here we describe a patient with AGS due to a homozygous p.Arg114His mutation in the TREX1 gene. The histologically proven inflammatory myopathy in our patient expands the range of clinical features of AGS. Histological signs of muscle biopsies in the proband, and in two other AGS patients described earlier, are similar to those seen in various autoimmune myositises and could be ascribed to inapproapriate IFN I activation. In view of signs of possible mitochondrial damage in AGS, we propose that mitochondrial DNA could be a trigger of autoimmune responses in AGS.
authors.affiliation: Department of Human and Medical Genetics, Centre for Medical Genetics, Vilnius University, Vilnius, Lithuania. Electronic address: tumbir@gmail.com.
authors.forename: Birutė
authors.initials: B
authors.lastname: Tumienė
authors.affiliation: Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.
authors.forename: Norine
authors.initials: N
authors.lastname: Voisin
authors.affiliation: Department of Human and Medical Genetics, Centre for Medical Genetics, Vilnius University, Vilnius, Lithuania.
authors.forename: Eglė
authors.initials: E
authors.lastname: Preikšaitienė
authors.affiliation: Department of Pathology, Forensic Medicine and Pharmacology, Faculty of Medicine, Vilnius University, Vilnius, Lithuania; National Centre of Pathology, Vilnius University Hospital Santariškių Klinikos, Vilnius, Lithuania.
authors.forename: Donatas
authors.initials: D
authors.lastname: Petroška
authors.affiliation: Clinic of Children's Diseases, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
authors.forename: Jurgita
authors.initials: J
authors.lastname: Grikinienė
authors.affiliation: Clinic of Children's Diseases, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
authors.forename: Rūta
authors.initials: R
authors.lastname: Samaitienė
authors.affiliation: Department of Human and Medical Genetics, Centre for Medical Genetics, Vilnius University, Vilnius, Lithuania.
authors.forename: Algirdas
authors.initials: A
authors.lastname: Utkus
authors.affiliation: Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.
authors.forename: Alexandre
authors.initials: A
authors.lastname: Reymond
authors.affiliation: Department of Human and Medical Genetics, Centre for Medical Genetics, Vilnius University, Vilnius, Lithuania.
authors.forename: Vaidutis
authors.initials: V
authors.lastname: Kučinskas
mesh_terms: D020274:Autoimmune Diseases of the Nervous System / Q000235:genetics* / Q000473:pathology*; D001483:Base Sequence; D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics; D005090:Exodeoxyribonucleases / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007370:Interferon Type I / Q000276:immunology*; D008928:Mitochondria / Q000235:genetics / Q000473:pathology*; D009220:Myositis / Q000473:pathology*; D009421:Nervous System Malformations / Q000235:genetics* / Q000473:pathology*; D010750:Phosphoproteins / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D004272:DNA, Mitochondrial; D007370:Interferon Type I; D010750:Phosphoproteins; D005090:Exodeoxyribonucleases; C429526:three prime repair exonuclease 1
keywords: Aicardi-Goutières syndrome; Autoimmune myositis; Exome sequencing; Inflammatory myopathy; Type I interferonopathy