A case of Muckle-Wells syndrome caused by a novel H312P mutation in NALP3 (cryopyrin).
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.
Koike
Ryuji
R
Department of Pharmacovigilance, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan. koike.rheu@tmd.ac.jp
Kubota
Tetsuo
T
Hara
Yukichi
Y
Ito
Sayaka
S
Suzuki
Kyoko
K
Yanagisawa
Kayoko
K
Uchibori
Ken
K
Miyasaka
Nobuyuki
N
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*
D002352:Carrier Proteins; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human