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Published on: August 15, 2019
A Novel NOD2-associated Mutation and Variant Blau Syndrome: Phenotype and Molecular Analysis
Nazanin Ebrahimiadib1,2, Khawla Abu Samra1,2, Aaron M Domina3
1a Massachusetts Eye Research and Surgery Institution , Waltham , MA , USA.
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.
