title: A case of Muckle-Wells syndrome caused by a novel H312P mutation in NALP3 (cryopyrin).
abstract: Here, we report a case of Muckle-Wells syndrome (MWS) caused by a novel mutation in the CIAS1/NALP3 gene. A 23-year-old woman had recurrent self-limited inflammatory episodes from childhood, with headache, abdominal pain, arthritis, and urticarial rash, associated with profound sensorineural hearing loss. The diagnosis was established on the basis of a typical clinical picture together with a missense mutation, which replaced an amino acid adjacent to one in an earlier reported case of MWS resembling this one.
authors: Department of Pharmacovigilance, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan. koike.rheu@tmd.ac.jp
authors: Ryuji
authors: R
authors: Koike
authors: Tetsuo
authors: T
authors: Kubota
authors: Yukichi
authors: Y
authors: Hara
authors: Sayaka
authors: S
authors: Ito
authors: Kyoko
authors: K
authors: Suzuki
authors: Kayoko
authors: K
authors: Yanagisawa
authors: Ken
authors: K
authors: Uchibori
authors: Nobuyuki
authors: N
authors: Miyasaka
mesh_terms: D000328:Adult; D002352:Carrier Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006311:Hearing Disorders / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007592:Joint Diseases / Q000175:diagnosis / Q000235:genetics*; D020125:Mutation, Missense; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D017354:Point Mutation; D013577:Syndrome; D014581:Urticaria / Q000175:diagnosis / Q000235:genetics*
chemical_list: D002352:Carrier Proteins; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human