DDX58 and Classic Singleton-Merten Syndrome
| العنوان: | DDX58 and Classic Singleton-Merten Syndrome |
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| المؤلفون: | Carlos Ferreira, Michele Nehrebecky, Yanick J. Crow, Ji Woo Park, Adriana Almeida de Jesus, William A. Gahl, Tracy A Briggs, Sun Hur, Pamela J. Gardner, Raphaela Goldbach-Mansky |
| المصدر: | Journal of Clinical Immunology Ferreira, C R, Crow, Y J, Gahl, W A, Gardner, P J, Goldbach-Mansky, R, Hur, S, de Jesús, A A, Nehrebecky, M, Park, J W & Briggs, T A 2019, ' DDX58 and Classic Singleton-Merten Syndrome ', Journal of clinical immunology, vol. 39, no. 1, pp. 75-80 . https://doi.org/10.1007/s10875-018-0572-1Test |
| بيانات النشر: | Springer US, 2018. |
| سنة النشر: | 2018 |
| مصطلحات موضوعية: | 0301 basic medicine, Male, Pathology, Interferonopathy, Lydia Becker Institute, medicine.disease_cause, 0302 clinical medicine, Interferon, Odontodysplasia, Immunology and Allergy, Receptors, Immunologic, Promoter Regions, Genetic, retinoic acid-inducible gene I, Mutation, Middle Aged, Phenotype, Singleton-Merten syndrome, Gain of Function Mutation, Interferon Type I, type I interferon, DEAD Box Protein 58, Original Article, Dental Enamel Hypoplasia, Female, Metacarpus, medicine.drug, Adult, medicine.medical_specialty, Singleton Merten syndrome, Immunology, Aortic Diseases, Cell Line, 03 medical and health sciences, Muscular Diseases, Psoriasis, ResearchInstitutes_Networks_Beacons/lydia_becker_institute_of_immunology_and_inflammation, Arthropathy, medicine, Humans, Vascular Calcification, business.industry, Sequela, medicine.disease, Type I interferon production, 030104 developmental biology, HEK293 Cells, Osteoporosis, business, 030215 immunology |
| الوصف: | Purpose Singleton-Merten syndrome manifests as dental dysplasia, glaucoma, psoriasis, aortic calcification, and skeletal abnormalities including tendon rupture and arthropathy. Pathogenic variants in IFIH1 have previously been associated with the classic Singleton-Merten syndrome, while variants in DDX58 has been described in association with a milder phenotype, which is suggested to have a better prognosis. We studied a family with severe, “classic” Singleton-Merten syndrome. Methods We undertook clinical phenotyping, next-generation sequencing, and functional studies of type I interferon production in patient whole blood and assessed the type I interferon promoter activity in HEK293 cells transfected with wild-type or mutant DDX58 stimulated with Poly I:C. Results We demonstrate a DDX58 autosomal dominant gain-of-function mutation, with constitutive upregulation of type I interferon. Conclusions DDX58 mutations may be associated with the classic features of Singleton-Merten syndrome including dental dysplasia, tendon rupture, and severe cardiac sequela. |
| اللغة: | English |
| تدمد: | 1573-2592 0271-9142 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb649cc4efdfd038ec4ae95dc3cc2dc6Test http://europepmc.org/articles/PMC6394545Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....fb649cc4efdfd038ec4ae95dc3cc2dc6 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15732592 02719142 |
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