Gradual Symmetric Progression of DFNA34 Hearing Loss Caused by an NLRP3 Mutation and Cochlear Autoinflammation.

ABSTRACT: OBJECTIVE:To characterize the audiometric phenotype of autosomal-dominant DFNA34 hearing loss (HL) caused by a missense substitution in the NLRP3 gene. NLRP3 encodes a critical component of the NLRP3 inflammasome that is activated in innate immune responses. STUDY DESIGN:This study was conducted under protocol 01-DC-0229 approved by the NIH Combined Neurosciences IRB. We performed medical and developmental history interviews and physical and audiological examinations of affected individuals with DFNA34 HL caused by the p.Arg918Gln mutation of NLRP3. We retrospectively reviewed audiological reports, when available, from other health care centers. SETTING:Federal biomedical research facility. SUBJECTS:Eleven members of a North American family segregating p.Arg918Gln. MAIN OUTCOME MEASURES:Pu

SUBMITTER: Nakanishi H 

PROVIDER: S-EPMC5807171 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature