Sanger sequencing in all 10 family members revealed a p.E313K (NM_001127462: c.G937A) mutation in NLRP3, a gene not included in any of the targeted NGS panels for deafness in previous reports (see Section 4 for details), as the only pathogenic mutation segregating with the hearing loss phenotype. The gene discussed is NLRP3; the disease is deafness.