Abstract
Cryopyrin-associated periodic syndromes (CAPS) are a spectrum of autoinflammatory disesase with spontaneous activation of the NLRP3 inflammasome, leading to hypersecretion of IL-1b. To date, more than 90 mutations have been described in NLRP3,primarily in exon 3, leading to the autoinflammatory symptoms observed in CAPS. Here, we describe a family with autosomal dominantly inherited, unilateral sensorineural hearing loss, found to have a novel mutation in exon 7 of NLRP3.
Highlights
Cryopyrin-associated periodic syndromes (CAPS) are a spectrum of autoinflammatory disesase with spontaneous activation of the NLRP3 inflammasome, leading to hypersecretion of IL-1b
More than 90 mutations have been described in NLRP3,primarily in exon 3, leading to the autoinflammatory symptoms observed in CAPS
Published: 28 September 2015 doi:10.1186/1546-0096-13-S1-O37 Cite this article as: Broderick et al.: Novel mutation in NLRP3 Exon 7 results in sensorineural hearing loss without chronic inflammation
Summary
Cryopyrin-associated periodic syndromes (CAPS) are a spectrum of autoinflammatory disesase with spontaneous activation of the NLRP3 inflammasome, leading to hypersecretion of IL-1b. More than 90 mutations have been described in NLRP3,primarily in exon 3, leading to the autoinflammatory symptoms observed in CAPS. We describe a family with autosomal dominantly inherited, unilateral sensorineural hearing loss, found to have a novel mutation in exon 7 of NLRP3
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