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Haotian Xiang, Ting Zhang, Mengping Chen, Xiaomin Zhou, Zhen Li, Naihong Yan, Shiguang Li, Qiyong Gong, Xuyang Liu; NOD2/CARD15 Gene Mutation Identified in a Chinese Family with Blau Syndrome. Invest. Ophthalmol. Vis. Sci. 2012;53(14):1572. doi: https://doi.org/.
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To characterize the clinical features of a Chinese pedigree with Blau syndrome and to identify mutations in NOD2/CARD15 gene.
Clinical features of this family were evaluated. Genomic DNA was obtained from blood samples, and all exons of the NOD2/CARD15 gene were amplified by polymerase chain reaction (PCR) and direct DNA sequencing of PCR products was performed for mutations in NOD2/CARD15.
Granulomatous arthritis, uveitis, and skin granulomas were found in all affected members. Sequencing analysis demonstrated a heterozygous C>T mutation in exon 4 in NOD2/CARD15 gene in all patients of this pedigree, which resulted in an amino acid substitution at position 334 (R334W).
R334W mutation of NOD2/CARD15 caused Blau syndrome in a Chinese pedigree. This is the first report of R334W mutation in NOD2/CARD15 gene in a Chinese pedigree with this disease.
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