Ocular immunology and inflammation · 2016
A Novel NOD2-associated Mutation and Variant Blau Syndrome: Phenotype and Molecular Analysis.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Ebrahimiadib Nazanin, Samra Khawla Abu, Domina Aaron M, Stiles Ethan R, Ewer Roger, Bocian Charlie P, Foster C Stephen
Аннотация
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.
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.
Предметные рубрики MeSH
Acetylmuramyl-Alanyl-IsoglutamineAdolescentAdultAngiogenesis InhibitorsArthritisChildDrug Therapy, CombinationFemaleFluorescein AngiographyGlucocorticoidsHEK293 CellsHumansImmunosuppressive AgentsMacular EdemaMaleMiddle AgedMolecular BiologyMutationNod2 Signaling Adaptor ProteinOptic NeuritisPhenotypeRetinitisSarcoidosisScleritisSynovitisTransfectionUveitisYoung AdultHereditary Autoinflammatory Diseases