NOD2/CARD15 gene mutation identified in a Chinese family with Blau syndrome
نویسندگان
چکیده
PURPOSE To characterize the clinical features of a Chinese pedigree with Blau syndrome and to identify mutations in the NOD2/CARD15 (nucleotide-binding oligomerization domain containing 2/caspase recruitment domain family, member 15) gene. METHODS Clinical features of this family were evaluated. Genomic DNA was obtained from blood samples, and all exons of NOD2/CARD15 were amplified by polymerase chain reaction (PCR) and direct DNA sequencing of PCR products was performed for mutations in NOD2/CARD15. RESULTS Granulomatous arthritis, uveitis, and skin granulomas were found in all affected members. Sequencing analysis demonstrated a heterozygous C>T mutation in exon 4 of NOD2/CARD15 in all patients of this pedigree, which resulted in an amino acid substitution at position 334 (p.R334W). CONCLUSIONS The R334W mutation in NOD2/CARD15 caused Blau syndrome in a Chinese pedigree. This is the first report of R334W mutation in NOD2/CARD15 in a Chinese pedigree of this disease.
منابع مشابه
Clinical phenotype and CARD15 gene mutation with Blau Syndrome in Chinese children and their parents
Results 8 patients were diagnosed. The onset age was from 1 month to 5 years. Three of them were misdiagnosed as JIA and Takayasu's arteritis respectively. One case had family history. All patients has had typical rash, joints problem, bilateral pan-uveitis. Two had hearing lose, four had Takayasu's arteritis with hypertension, and two of them had renal artery stenosis with severe hypertension ...
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