Identification Of A De Novo Nlrp3 Gene Variation In An Italian Behcet Syndrome Patient

A novel nonsynonymous variation of NLRP3 was identified in an Italian patient with Behcet syndrome using both bioinformatics and molecular methods. This variation was a thymine to guanine polymorphism responsible for the isoleucine to serine amino acid change at position 348. The novel variation was predicted to be a pathogenic allele.