{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,16]],"date-time":"2026-02-16T19:43:03Z","timestamp":1771270983442,"version":"3.50.1"},"reference-count":35,"publisher":"MDPI AG","issue":"18","license":[{"start":{"date-parts":[[2023,9,21]],"date-time":"2023-09-21T00:00:00Z","timestamp":1695254400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Korean Health Technology R&amp;D Project, Ministry of Health and Welfare, Republic of Korea","award":["HI21C1576"],"award-info":[{"award-number":["HI21C1576"]}]},{"name":"Korean Health Technology R&amp;D Project, Ministry of Health and Welfare, Republic of Korea","award":["2020R1A2C3005787"],"award-info":[{"award-number":["2020R1A2C3005787"]}]},{"name":"Korean Health Technology R&amp;D Project, Ministry of Health and Welfare, Republic of Korea","award":["2020M3A9D5A01082439"],"award-info":[{"award-number":["2020M3A9D5A01082439"]}]},{"name":"Korean Health Technology R&amp;D Project, Ministry of Health and Welfare, Republic of Korea","award":["6-2021-0002"],"award-info":[{"award-number":["6-2021-0002"]}]},{"name":"Korean Health Technology R&amp;D Project, Ministry of Health and Welfare, Republic of Korea","award":["6-2021-0003"],"award-info":[{"award-number":["6-2021-0003"]}]},{"name":"National Research Foundation of Korea (NRF) grants","award":["HI21C1576"],"award-info":[{"award-number":["HI21C1576"]}]},{"name":"National Research Foundation of Korea (NRF) grants","award":["2020R1A2C3005787"],"award-info":[{"award-number":["2020R1A2C3005787"]}]},{"name":"National Research Foundation of Korea (NRF) grants","award":["2020M3A9D5A01082439"],"award-info":[{"award-number":["2020M3A9D5A01082439"]}]},{"name":"National Research Foundation of Korea (NRF) grants","award":["6-2021-0002"],"award-info":[{"award-number":["6-2021-0002"]}]},{"name":"National Research Foundation of Korea (NRF) grants","award":["6-2021-0003"],"award-info":[{"award-number":["6-2021-0003"]}]},{"name":"Korea Mouse Phenotyping Project","award":["HI21C1576"],"award-info":[{"award-number":["HI21C1576"]}]},{"name":"Korea Mouse Phenotyping Project","award":["2020R1A2C3005787"],"award-info":[{"award-number":["2020R1A2C3005787"]}]},{"name":"Korea Mouse Phenotyping Project","award":["2020M3A9D5A01082439"],"award-info":[{"award-number":["2020M3A9D5A01082439"]}]},{"name":"Korea Mouse Phenotyping Project","award":["6-2021-0002"],"award-info":[{"award-number":["6-2021-0002"]}]},{"name":"Korea Mouse Phenotyping Project","award":["6-2021-0003"],"award-info":[{"award-number":["6-2021-0003"]}]},{"name":"Team Science Award of Yonsei University College of Medicine","award":["HI21C1576"],"award-info":[{"award-number":["HI21C1576"]}]},{"name":"Team Science Award of Yonsei University College of Medicine","award":["2020R1A2C3005787"],"award-info":[{"award-number":["2020R1A2C3005787"]}]},{"name":"Team Science Award of Yonsei University College of Medicine","award":["2020M3A9D5A01082439"],"award-info":[{"award-number":["2020M3A9D5A01082439"]}]},{"name":"Team Science Award of Yonsei University College of Medicine","award":["6-2021-0002"],"award-info":[{"award-number":["6-2021-0002"]}]},{"name":"Team Science Award of Yonsei University College of Medicine","award":["6-2021-0003"],"award-info":[{"award-number":["6-2021-0003"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>Genetic hearing loss is the most common hereditary sensorial disorder. Though more than 120 genes associated with deafness have been identified, unveiled causative genes and variants of diverse types of hearing loss remain. Herein, we identified a novel nonsense homozygous variant in CEP250 (c.3511C&gt;T; p.Gln1171Ter) among the family members with progressive moderate sensorineural hearing loss in nonsyndromic autosomal recessive type but without retinal degeneration. CEP250 encodes C-Nap1 protein belonging to the CEP protein family, comprising 30 proteins that play roles in centrosome aggregation and cell cycle progression. The nonsense variant in CEP250 led to the early truncating protein of C-Nap1, which hindered centrosome localization; heterologous expression of CEP250 (c.3511C&gt;T) in NIH3T3 cells within cilia expression condition revealed that the truncating C-Nap1 (p.Gln1171Ter) was not localized at the centrosome but was dispersed in the cytosol. In the murine adult cochlea, Cep250 was expressed in the inner and outer hair cells. Knockout mice of Cep250 showed significant hair cell degeneration and progressive hearing loss in auditory brainstem response. In conclusion, a nonsense variant in CEP250 results in a deficit of centrosome localization and hair cell degeneration in the cochlea, which is associated with the progression of hearing loss in humans and mice.<\/jats:p>","DOI":"10.3390\/cells12182328","type":"journal-article","created":{"date-parts":[[2023,9,21]],"date-time":"2023-09-21T21:08:36Z","timestamp":1695330516000},"page":"2328","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Novel Variant in CEP250 Causes Protein Mislocalization and Leads to Nonsyndromic Autosomal Recessive Type of Progressive Hearing Loss"],"prefix":"10.3390","volume":"12","author":[{"given":"Minjin","family":"Kang","sequence":"first","affiliation":[{"name":"Department of Otorhinolaryngology, Graduate School of Medical Science, Brain Korea 21 Project, Yonsei University College of Medicine, Seoul 03722, Republic of Korea"},{"name":"Institute for Lee Won Sang Yonsei Ear Science, Seoul 03722, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jung Ah","family":"Kim","sequence":"additional","affiliation":[{"name":"Institute for Lee Won Sang Yonsei Ear Science, Seoul 03722, Republic of Korea"},{"name":"Department of Pharmacology, Graduate School of Medical Science, Brain Korea 21 Project, Yonsei University College of Medicine, Seoul 03722, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mee Hyun","family":"Song","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology Head and Neck Surgery, Myongji Hospital, Hanyang University College of Medicine, Goyang 04763, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sun Young","family":"Joo","sequence":"additional","affiliation":[{"name":"Institute for Lee Won Sang Yonsei Ear Science, Seoul 03722, Republic of Korea"},{"name":"Department of Pharmacology, Graduate School of Medical Science, Brain Korea 21 Project, Yonsei University College of Medicine, Seoul 03722, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Se Jin","family":"Kim","sequence":"additional","affiliation":[{"name":"Institute for Lee Won Sang Yonsei Ear Science, Seoul 03722, Republic of Korea"},{"name":"Department of Pharmacology, Graduate School of Medical Science, Brain Korea 21 Project, Yonsei University College of Medicine, Seoul 03722, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seung Hyun","family":"Jang","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, Graduate School of Medical Science, Brain Korea 21 Project, Yonsei University College of Medicine, Seoul 03722, Republic of Korea"},{"name":"Institute for Lee Won Sang Yonsei Ear Science, Seoul 03722, Republic of Korea"},{"name":"Department of Pharmacology, Graduate School of Medical Science, Brain Korea 21 Project, Yonsei University College of Medicine, Seoul 03722, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5573-742X","authenticated-orcid":false,"given":"Ho","family":"Lee","sequence":"additional","affiliation":[{"name":"Graduate School of Cancer Science and Policy, National Cancer Center, Goyang-si 10408, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1177-6958","authenticated-orcid":false,"given":"Je Kyung","family":"Seong","sequence":"additional","affiliation":[{"name":"Laboratory of Developmental Biology and Genomics, BK21 PLUS Program for Creative Veterinary Science Research, Research Institute for Veterinary Science, College of Veterinary Medicine, Seoul National University, Seoul 08826, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jae Young","family":"Choi","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, Graduate School of Medical Science, Brain Korea 21 Project, Yonsei University College of Medicine, Seoul 03722, Republic of Korea"},{"name":"Institute for Lee Won Sang Yonsei Ear Science, Seoul 03722, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8741-6177","authenticated-orcid":false,"given":"Heon Yung","family":"Gee","sequence":"additional","affiliation":[{"name":"Institute for Lee Won Sang Yonsei Ear Science, Seoul 03722, Republic of Korea"},{"name":"Department of Pharmacology, Graduate School of Medical Science, Brain Korea 21 Project, Yonsei University College of Medicine, Seoul 03722, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1906-6969","authenticated-orcid":false,"given":"Jinsei","family":"Jung","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, Graduate School of Medical Science, Brain Korea 21 Project, Yonsei University College of Medicine, Seoul 03722, Republic of Korea"},{"name":"Institute for Lee Won Sang Yonsei Ear Science, Seoul 03722, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,9,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1136\/bmj.323.7312.536","article-title":"Prevalence of permanent childhood hearing impairment in the United Kingdom and implications for universal neonatal hearing screening: Questionnaire based ascertainment study","volume":"323","author":"Fortnum","year":"2001","journal-title":"BMJ"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"546","DOI":"10.2174\/156652409788488775","article-title":"Function and expression pattern of nonsyndromic deafness genes","volume":"9","author":"Hilgert","year":"2009","journal-title":"Curr. 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