A Novel NOD2-associated Mutation and Variant Blau Syndrome: Phenotype and Molecular Analysis
| العنوان: | A Novel NOD2-associated Mutation and Variant Blau Syndrome: Phenotype and Molecular Analysis |
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| المؤلفون: | Nazanin Ebrahimiadib, Aaron M. Domina, C. Stephen Foster, Roger Ewer, Charlie P. Bocian, Ethan R. Stiles, Khawla Abu Samra |
| المصدر: | Ocular Immunology and Inflammation. 26:57-64 |
| بيانات النشر: | Informa UK Limited, 2016. |
| سنة النشر: | 2016 |
| مصطلحات موضوعية: | Male, 0301 basic medicine, Nod2 Signaling Adaptor Protein, Angiogenesis Inhibitors, chemistry.chemical_compound, NOD2, Immunology and Allergy, Fluorescein Angiography, Child, Genetics, Synovitis, medicine.diagnostic_test, Autosomal dominant trait, Middle Aged, Penetrance, Phenotype, Mutation (genetic algorithm), Drug Therapy, Combination, Female, Acetylmuramyl-Alanyl-Isoglutamine, Immunosuppressive Agents, Muramyl dipeptide, Adult, Optic Neuritis, Adolescent, Sarcoidosis, Transfection, Macular Edema, Uveitis, Young Adult, 03 medical and health sciences, medicine, Humans, Glucocorticoids, Molecular Biology, Blau syndrome, Gene, Genetic testing, business.industry, Arthritis, Retinitis, medicine.disease, digestive system diseases, Ophthalmology, HEK293 Cells, 030104 developmental biology, chemistry, Mutation, business, Scleritis |
| الوصف: | Purpose: To describe the clinical and molecular implications of a novel mutation in the NOD2/CARD15 gene on a family and its seven affected members.Methods: We reviewed the clinical presentations of family members who came to our center for refractory uveitis. Genetic testing and molecular testing was performed.Results: All affected members had adult onset recurrent non-granulomatous panuveitis. The inheritance pattern suggested an autosomal dominant disease and genetic analysis identified a novel mutation in the NOD2 gene that converted amino acid 600 from glutamate to alanine (E600A). Transfection of the E600A NOD2 into human embryonic kidney-293 (HEK293) cells revealed constitutive activation and a reduced ability to respond to the NOD2 ligand, muramyl dipeptide (MDP) as compared with wild-type NOD2.Conclusions: The E600A mutation in the NOD2 gene may confer a higher penetrance of uveitis but a later onset of milder forms of non-ocular involvement. |
| تدمد: | 1744-5078 0927-3948 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5d28ba7e75a7c3d1f986088213324b9 https://doi.org/10.1080/09273948.2016.1185529 |
| رقم الأكسشن: | edsair.doi.dedup.....c5d28ba7e75a7c3d1f986088213324b9 |
| قاعدة البيانات: | OpenAIRE |
PDF full text from Publisher | تدمد: | 17445078 09273948 |
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