Identification and functional consequences of a recurrent NLRP12 missense mutation in periodic fever syndromes

• Published in: Arthritis & rheumatology (Hoboken, N.J.) Vol. 63; no. 5; pp. 1459 - 1464
• Main Authors: Jéru, Isabelle, Le Borgne, Gaëlle, Cochet, Emmanuelle, Hayrapetyan, Hasmik, Duquesnoy, Philippe, Grateau, Gilles, Morali, Alain, Sarkisian, Tamara, Amselem, Serge
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.05.2011; Wiley; Wiley Subscription Services, Inc
• Subjects: Apoptosis; Binding sites; Biological and medical sciences; Caspase-1; CpG islands; Diseases of the osteoarticular system; Exons; Fever; Genetics; Haplotypes; Hereditary Autoinflammatory Diseases - genetics; Human genetics; Humans; Inflammatory joint diseases; Intracellular Signaling Peptides and Proteins - genetics; Life Sciences; Malformations and congenital and or hereditary diseases involving bones. Joint deformations; Medical sciences; Missense mutation; Mutation; Mutation, Missense - genetics; Phenotype; Speck; Relapse; Missense mutation; Diseases of the osteoarticular system; Familial mediterranean fever; Rheumatology; Hereditary periodic fever; Identification; Genetic disease; Inflammatory disease

Objective To gain insight into the molecular bases of genetically unexplained periodic fever syndromes (PFS) by screening NLRP12, a gene in which only a nonsense and a splice site mutation have so far been identified, and to assess the functional consequences of the identified missense variation. Me...