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C. Villanueva-Mendoza, L. Arellanes-Garcia, J. C. Zenteno; Familial Case of Blau Syndrome Associated With CARD/Nod2 Mutation. Invest. Ophthalmol. Vis. Sci. 2009;50(13):4102.
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To report a familial case of Blau syndrome associated with a CARD15/Nod2 mutation. Blau syndrome is a rare autosomal dominant disorder characterized by early onset granulomatous arthritis, uveitis, skin rash and camptodactily. The disease was first described by Blau in 1985 and is now recognized as a specific entity caused by recurrent mutations in CARD15/Nod2. Blau syndrome should be considered in the differential diagnosis of childhood uveitis and the genetic analysis of the CARD15/Nod2 gene is helpful in the diagnosis. We present the clinical and genetic analysis of a family with a history of recurrent anterior uveitis, early onset arthritis, skin rash and camptodactily.
A complete systemic and ophthalmologic evaluation for phenotypic characterization was done. Genomic DNA from the patient and two daughters was obtained from blood leukocytes following standard procedures. PCR amplification and automated DNA sequencing of the complete CARD15/Nod2 coding sequence was performed.
The propositus is a 43 year-old female with a history of camptodactily in both hands; she was diagnosed with rheumatoid arthritis when she was 17 year-old. She has presented recurrent anterior uveitis OD for the last 7 years, she has also had skin rash. Patient's second daughter has camptodactily in 3° and 4° digits. Molecular analysis in affected subjects disclosed a heterozygous c.1147G>C point mutation in CARD15/Nod2 exon 4, that predicts a p.E383K change at the protein level.
Blau syndrome in this pedigree is caused by a E383K mutation in CARD15/Nod2. This mutation was previously described in an affected family from Italy. This pedigree support the current notion that Blau syndrome is caused by a limited number of recurrent mutations in CARD15/Nod2.
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