A homozygote TREX1 mutation in two siblings with different phenotypes: Chilblains and cerebral vasculitis |
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| Institution: | 1. Department of Pediatric Rheumatology, Cukurova University Faculty of Medicine, Adana, Turkey;2. Department of Medical Genetics, AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center), Cukurova University Faculty of Medicine, Adana, Turkey;3. Department of Pediatric Allergy and Immunology, Cukurova University Faculty of Medicine, Adana, Turkey;1. School of Biological Sciences, Seoul National University, Seoul 08826, Republic of Korea;2. Department of the Interdisciplinary Program in Genetic Engineering, Seoul National University, Seoul 08826, Republic of Korea;1. Pfizer – University of Granada – Andalusian Government Center for Genomics and Oncological Research (GENYO), Av de la Ilustración 114, PTS, 18016, Granada, Spain;2. Unit of Inflammatory Chronic Diseases, Institute of Environmental Medicine, Karolinska Institutet, Solna, 17777, Sweden;1. Institute of Virology and AIDS Research, The First Hospital of Jilin University, 519 E. Minzhu St., Changchun, Jilin 130061, China;2. Department of Internal Medicine, The First Hospital of Jilin University, Changchun, Jilin 130061, China;3. Cancer Institute (Key Laboratory of Cancer Prevention and Intervention, China National Ministry of Education), Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang 310009, China |
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| Abstract: | Three prime repair exonuclease 1 degrades single and double stranded DNA with 3′-5′ nuclease activity and its mutations are related to type 1 IFN mediated autoinflammation due to accumulated intracellular nucleic acids. To date, several cases of systemic lupus erythematosus, Aicardi-Goutieres syndrome, familial chilblain lupus, retinal vasculopathy-cerebral leukodystrophy have been reported with TREX1 mutations.Chilblain lupus is a skin disease characterized by blue-reddish coloring, swelling or ulcers on acral regions of body such as fingertips, heels, nose and auricles. Central nervous system vasculitis is a prominent cause of childhood strokes.10 families with familial chilblain lupus related to TREX1 mutations were reported previously in the literature, in which homozygote D18N variant in TREX1 gene was related to chilblains with cerebral vasculitis.In this report, whole-exome-sequencing revealed a homozygote R114C mutation in TREX1 gene was shown in two siblings with recurrent chilblains whom one of them was the second case accompanied by cerebral vasculitis in the literature. As a result, the approach of WES in clinical use revealed a novel mutation in clinically heterogenous patients to provide genetic counseling. |
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| Keywords: | Cerebral vasculitis Chilblain Autoinflammatory diseases |
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