A novel NOD2-associated mutation and variant Blau syndrome: phenotype and molecular analysis
Publish Year: 1397
نوع سند: مقاله کنفرانسی
زبان: English
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شناسه ملی سند علمی:
IRAVOMED08_002
تاریخ نمایه سازی: 21 اردیبهشت 1397
Abstract:
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 to wild type NOD2.Conclusion: 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.
Authors
Nazanin Ebrahimiadib
Tehran University of Medical Sciences
Khawla Abu Samra
Tehran University of Medical Sciences
Aaron M. Domina
Ph.D Tehran University of Medical Sciences
Ethan R. Stiles
Tehran University of Medical Sciences