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Genotype\u2013phenotype correlations for Usher syndrome type 2 (USH2) suggest that the <jats:italic>USH2A<\/jats:italic> gene exhibits an allelic hierarchy. Here, we analyzed the phenotypes and genotypes of 16 South Korean patients with <jats:italic>USH2A<\/jats:italic> biallelic variants to investigate an allelic hierarchy from audiological and ophthalmological perspectives. Using whole exome and genome sequencing, 18 mutant alleles, including 4 novel alleles, were identified and implicated in <jats:italic>USH2A<\/jats:italic>-related disorders. Truncated alleles were linked to earlier onset of subjective hearing loss and more severe thresholds; biallelic truncated alleles had more severe effects. Truncated alleles were also associated with retinal structure degeneration and severe functional deterioration. However, younger patients (aged\u2009&lt;\u200916\u00a0years) did not exhibit overt retinitis pigmentosa even when they had biallelic truncated alleles, suggesting that <jats:italic>USH2A<\/jats:italic>-related USH2 can mimic nonsyndromic hearing loss. For truncated alleles, there was a clear correlation between mean hearing threshold and 30-Hz flicker electroretinography implicit time. This study provides the first evidence of an <jats:italic>USH2A<\/jats:italic>-related allelic hierarchy among South Korean patients; our data yield valuable insights concerning the natural courses of clinical phenotypes and how genotype-based therapies may be used.<\/jats:p>","DOI":"10.1038\/s41598-023-47166-w","type":"journal-article","created":{"date-parts":[[2023,11,19]],"date-time":"2023-11-19T16:02:19Z","timestamp":1700409739000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Allelic hierarchy for USH2A influences auditory and visual phenotypes in South Korean patients"],"prefix":"10.1038","volume":"13","author":[{"given":"Dong Woo","family":"Nam","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yong Keun","family":"Song","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeong Hun","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eun Kyoung","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyu Hyung","family":"Park","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"JuHyuen","family":"Cha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Byung Yoon","family":"Choi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun Ho","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seung Ha","family":"Oh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dong Hyun","family":"Jo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sang-Yeon","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,11,19]]},"reference":[{"key":"47166_CR1","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1097\/AUD.0000000000001066","volume":"43","author":"E Nisenbaum","year":"2022","unstructured":"Nisenbaum, E. et al. 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