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...

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Bibliographic Details
Published inModern rheumatology Vol. 17; no. 6; p. 496
Main Authors Koike, Ryuji, Kubota, Tetsuo, Hara, Yukichi, Ito, Sayaka, Suzuki, Kyoko, Yanagisawa, Kayoko, Uchibori, Ken, Miyasaka, Nobuyuki
Format Journal Article
LanguageEnglish
Published Tokyo Informa Healthcare 01.12.2007
Subjects
Case studies
Genetic disorders
Medical diagnosis
Mutation
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Summary: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. [PUBLICATION ABSTRACT]
ISSN:1439-7595
1439-7609
DOI:10.1007/s10165-007-0616-5