{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T10:31:19Z","timestamp":1762079479938,"version":"build-2065373602"},"reference-count":96,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2022,12,2]],"date-time":"2022-12-02T00:00:00Z","timestamp":1669939200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001807","name":"FUNDA\u00c7\u00c3O DE AMPARO A PESQUISA DO ESTADO DE S\u00c3O PAULO","doi-asserted-by":"publisher","award":["2013\/08028-1","2014\/13071-6","2018\/03433-9","467118\/2014"],"award-info":[{"award-number":["2013\/08028-1","2014\/13071-6","2018\/03433-9","467118\/2014"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"name":"National Council for Scientific and Technological Development","award":["2013\/08028-1","2014\/13071-6","2018\/03433-9","467118\/2014"],"award-info":[{"award-number":["2013\/08028-1","2014\/13071-6","2018\/03433-9","467118\/2014"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Hearing loss is the most common sensory deficit, affecting 466 million people worldwide. The vast and diverse genes involved reflect the complexity of auditory physiology, which requires the use of animal models in order to gain a fuller understanding. Among the loci with a yet-to-be validated gene is the DFNA58, in which ~200 Kb genomic duplication, including three protein-coding genes (PLEK, CNRIP1, and PPP3R1\u2032s exon1), was found to segregate with autosomal dominant hearing loss. Through whole genome sequencing, the duplication was found to be in tandem and inserted in an intergenic region, without the disruption of the topological domains. Reanalysis of transcriptomes data studies (zebrafish and mouse), and RT-qPCR analysis of adult zebrafish target organs, in order to access their orthologues expression, highlighted promising results with Cnrip1a, corroborated by zebrafish in situ hybridization and immunofluorescence. Mouse data also suggested Cnrip1 as the best candidate for a relevant role in auditory physiology, and its importance in hearing seems to have remained conserved but the cell type exerting its function might have changed, from hair cells to spiral ganglion neurons.<\/jats:p>","DOI":"10.3390\/genes13122274","type":"journal-article","created":{"date-parts":[[2022,12,5]],"date-time":"2022-12-05T03:38:38Z","timestamp":1670211518000},"page":"2274","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["New Insights into the Identity of the DFNA58 Gene"],"prefix":"10.3390","volume":"13","author":[{"given":"Larissa Reis do","family":"Nascimento","sequence":"first","affiliation":[{"name":"Laborat\u00f3rio de Otorrinolaringologia\/LIM 32, Hospital das Cl\u00ednicas HCFMUSP, Faculdade de Medicina, Universidade de S\u00e3o Paulo, S\u00e3o Paulo 01246-903, Brazil"},{"name":"Otorhinolaryngology Department, Faculdade de Medicina da Universidade de S\u00e3o Paulo, S\u00e3o Paulo 05508-060, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gleiciele Alice","family":"Vieira-Silva","sequence":"additional","affiliation":[{"name":"Laborat\u00f3rio de Otorrinolaringologia\/LIM 32, Hospital das Cl\u00ednicas HCFMUSP, Faculdade de Medicina, Universidade de S\u00e3o Paulo, S\u00e3o Paulo 01246-903, Brazil"},{"name":"Otorhinolaryngology Department, Faculdade de Medicina da Universidade de S\u00e3o Paulo, S\u00e3o Paulo 05508-060, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jo\u00e3o Paulo Fumio Whitaker","family":"Kitajima","sequence":"additional","affiliation":[{"name":"Mendelics Genomic Analysis, S\u00e3o Paulo 02511-000, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4935-7687","authenticated-orcid":false,"given":"Ana Carla","family":"Batissoco","sequence":"additional","affiliation":[{"name":"Laborat\u00f3rio de Otorrinolaringologia\/LIM 32, Hospital das Cl\u00ednicas HCFMUSP, Faculdade de Medicina, Universidade de S\u00e3o Paulo, S\u00e3o Paulo 01246-903, Brazil"},{"name":"Otorhinolaryngology Department, Faculdade de Medicina da Universidade de S\u00e3o Paulo, S\u00e3o Paulo 05508-060, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7495-9789","authenticated-orcid":false,"given":"Karina","family":"Lezirovitz","sequence":"additional","affiliation":[{"name":"Laborat\u00f3rio de Otorrinolaringologia\/LIM 32, Hospital das Cl\u00ednicas HCFMUSP, Faculdade de Medicina, Universidade de S\u00e3o Paulo, S\u00e3o Paulo 01246-903, Brazil"},{"name":"Otorhinolaryngology Department, Faculdade de Medicina da Universidade de S\u00e3o Paulo, S\u00e3o Paulo 05508-060, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,12,2]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1111\/j.1532-5415.1990.tb01595.x","article-title":"Association Between Hearing Impairment and the Quality of Life of Elderly Individuals","volume":"38","author":"Mulrow","year":"1990","journal-title":"J. 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