Identification of a de novo NLRP3 gene variation in an Italian Behçet syndrome patient. (10th June 2019)

• Record Type: Journal Article
• Authors: Padula, Maria Carmela; Leccese, Pietro; Lascaro, Nancy; Padula, Angela Anna; Carbone, Teresa; Martelli, Giuseppe; D'Angelo, Salvatore
• Is Part Of: International journal of immunogenetics. Volume 46:Number 5(2019:Oct.)
• Page Start: 339
• Page End: 341
• Publication Date: 2019-06-10
• Subjects: Behçet syndrome -- bioinformatics -- molecular genetics -- new alleles -- NLRP3; Immunogenetics -- Periodicals; 571.9648
• DOI: 10.1111/iji.12442
• Languages: English
• ISSNs: 1744-3121

Abstract

Abstract: A novel nonsynonymous variation of NLRP3 was identified in an Italian patient with Behçet 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.