Mutations in the autoinflammatory cryopyrin-associated periodic syndrome gene: epidemiological study and lessons from eight years of genetic analysis in France

• DOI: 10.1136/ard.2010.138420
• Publication Date: 2010-11-26T01:14:26Z
• Authors: L Cuisset; I Jeru; B Dumont; A Fabre; E Cochet; J Le Bozec; M Delpech; S Amselem; I Touitou
• Keywords: Proband

Background Cryopyrin-associated periodic syndromes (CAPS) consist of a continuum autoinflammatory diseases caused by defect in interleukin 1β regulation. Although symptoms may vary widely, the discovery, 2001, gene involved ( NLRP3 ) has dramatically helped diagnosis. Objectives To define spectrum and prevalence mutations France to delineate initial criteria before molecular analysis. Methods Retrospective review (2001–9) genetic analysis data request forms patients living with an mutation since set up CAPS diagnosis three French laboratories providing this test (GenMAI network). Results Over 800 analyses have been conducted, identifying 135 cases (55 probands; 33 multiplex families); estimated was equal 1/360 000. A total 21 different sequence variants were detected, among which four are common nine new mutations. Conclusions number requests doubled over past 5 years, screening not contributed enhanced detection index each year. There two possible reasons for this: (i) no clinical prerequisite (ii) few large families now identified (unlike study based on selection linkage). drawn it is recommended should be fulfilled patient tested: at least recurrent bouts, age disease onset < 20 years elevated levels C-reactive protein, especially individuals urticaria moderate fever.