PW02-030 - Clinical phenotype in individuals with Q703K
نویسندگان
چکیده
Introduction Mutations in the NLRP3 gene are associated with the dominantly inherited cryopyrin-associated periodic syndrome (CAPS) characterized by episodes of fever, urticarial rash, arthralgia, myalgia, eye inflammation, and, in its more severe forms, bony abnormalities and CNS inflammation. Of the 145 sequence variants in NLRP3 reported to date, 30 are either nonpathogenic or of undetermined significance, the commonest of which, Q703K, has been reported in 5 to10% of general population.
منابع مشابه
PW02-040 - Low-penetrance NLRP3 variants
Methods This multi-center observational study included 44 patients (25 children and 19 adults). All patients were symptomatic with some symptoms suggesting possible CAPS at the time of baseline examination. Genetic analysis detected one of the following NLRP3 variants: Q703K (n=18), R488K (n=6), and V198M (n=20). Clinical phenotypes were described and laboratory markers were analyzed. In order ...
متن کاملPW02-032 - CNS manifestations and NLRP3/CIAS1 gene mutations
Results 15 patients (16%; 12 females) were identified to carry one of the two low-penetrance mutations in exon 3 of the NLRP3 gene (V198M: n= 2; Q703K: n =13). CAPS-associated systemic symptoms consisted of recurrent inflammation of the eyes, arthralgias, myalgias, urticarial rash, abdominal pain, and severe fatigue. CNS manifestation included optic nerve inflammation and/or atrophy, cranial ne...
متن کاملP02-031 - Phenotype of V198M and Q703K NLRP3 variants
Introduction The term CAPS (cryopyrin-associated periodic syndromes) identifies a spectrum of autoinflammatory diseases caused by heterozygous mutations of the CIAS1/ NLRP3. Affected individuals may present three different phenotypes: familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and CINCA syndrome, the most severe form of the clinical spectrum. Clinical manifestat...
متن کاملPReS-FINAL-2196: The clinical significance of the Q703K mutation of NLRP3 gene. A multicentric national study
Results The Q703K mutation was found in the 35 screened patients (pediatric 17 vs adult 18, with the mean age was 23,7 years, range 3-64). The mean age at onset was 21,5 years (range 0,5-57). Thirty patients were heterozygous for theQ703K mutation only. Two pts displayed other mutations of NLRP3 gene (M604I in one CINCA and D303N and V198M in a MWS). Three patients display a monoallelic variant...
متن کاملPW02-005 - A web registry of genotype-phenotype correlation
Introduction the possible range of clinical manifestations associated to the different mutations associated to autoinflammatory disorders is still largely unknown. A registry of hereditary auto-inflammatory disorders mutations is available on the web (Infevers, http://fmf.igh.cnrs.fr/ISSAID/infevers/). This registry gathers updated information on all mutations responsible for hereditary inflamm...
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