Identification of a de novo NLRP3 gene variation in an Italian Behçet syndrome patient

Int J Immunogenet. 2019 Oct;46(5):339-341. doi: 10.1111/iji.12442. Epub 2019 Jun 10.

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.

Keywords: Behçet syndrome; NLRP3; bioinformatics; molecular genetics; new alleles.

Publication types

  • Case Reports

MeSH terms

  • Alleles
  • Base Sequence
  • Behcet Syndrome / diagnosis*
  • Behcet Syndrome / genetics*
  • DNA Mutational Analysis
  • Genetic Association Studies* / methods
  • Genetic Predisposition to Disease*
  • Genetic Variation*
  • Genotype
  • Humans
  • Italy
  • Male
  • Middle Aged
  • NLR Family, Pyrin Domain-Containing 3 Protein / genetics*
  • Polymorphism, Genetic

Substances

  • NLR Family, Pyrin Domain-Containing 3 Protein
  • NLRP3 protein, human

Associated data

  • GENBANK/MK697677