Introduction:Behçet’s disease [BD] shares clinical features with well-recognized auto-inflammatory disorders. In addition, mutations in genes for Familial Mediterranean fever and TNF receptor-associated periodic syndrome have been reported to be increased in BD patients.
Patients and methods: We analyzed DNA samples from 97 BD patients and 51 matched healthy controls for the MVK, CIAS1, and PSTPIP1 genes, responsible for MKD (mevalonate kinase deficiency), CAPS (cryopyrin associated periodic syndromes), and PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum and acne), respectively. Over 90% of known mutations were screened using Restriction Fragment Length Polymorphism analysis and/or sequencing.
Results: Two patients had paired mutations in the MVK gene (genotypes: V377I/V377I, V377I/S135L) and displayed typical BD and MKD features. Another was heterozygous for V377I. The V198M mutation in the CIAS1 gene was identified in one patient with typical BD but no symptoms of CAPS. No mutations were identified in the control group. PSTPIP1 analysis revealed a novel exon 10 insertion variant (c.741+33_741+34insGT) in 2/97 patients and in 1/51 controls (p>0.05), indicating that it is a polymorphism rather than a true mutation.
Discussion: This study could not demonstrate any significant increases in MVK, CIAS1, or PSTPIP1 mutations in BD patients as compared to controls.
- Behçet's disease
- Mevalonate kinase deficiency
- autoinflammatory diseases