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We compared DNA sequences across genomic coding regions between familial or sporadic cases of severe presbycusis and controls with normal hearing. The frequency of ultrarare predicted pathogenic variants in genes known to cause dominant early-onset forms of deafness was significantly higher in both familial and sporadic cases than in controls. Pathogenicity of many of these variants was established with complementary analyses. Ultrarare variants have a large effect size and are known to cause monogenic disorders. These findings open up possibilities for curing these forms of presbycusis by gene therapy.<\/jats:p>","DOI":"10.1073\/pnas.2010782117","type":"journal-article","created":{"date-parts":[[2020,11,23]],"date-time":"2020-11-23T21:42:10Z","timestamp":1606167730000},"page":"31278-31289","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":59,"title":["Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis"],"prefix":"10.1073","volume":"117","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7559-0901","authenticated-orcid":false,"given":"Sophie","family":"Boucher","sequence":"first","affiliation":[{"name":"Institut de l\u2019Audition, Institut Pasteur, INSERM, 75012 Paris, France;"},{"name":"Complexit\u00e9 du Vivant, Sorbonne Universit\u00e9s, Universit\u00e9 Pierre et Marie Curie, Universit\u00e9 Paris 06, 75005 Paris, France;"},{"name":"Centre Hospitalier 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