{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T05:02:22Z","timestamp":1788498142659,"version":"build-2803163510"},"reference-count":65,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2024,9,20]],"date-time":"2024-09-20T00:00:00Z","timestamp":1726790400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Science and Technology Council of the Executive Yuan of Taiwan","award":["NSTC 110-2923-B-002-001-MY3"],"award-info":[{"award-number":["NSTC 110-2923-B-002-001-MY3"]}]},{"name":"National Science and Technology Council of the Executive Yuan of Taiwan","award":["NHRI-EX113-11311PI"],"award-info":[{"award-number":["NHRI-EX113-11311PI"]}]},{"name":"National Health Research Institutes","award":["NSTC 110-2923-B-002-001-MY3"],"award-info":[{"award-number":["NSTC 110-2923-B-002-001-MY3"]}]},{"name":"National Health Research Institutes","award":["NHRI-EX113-11311PI"],"award-info":[{"award-number":["NHRI-EX113-11311PI"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Background\/Objective: The genetic landscape of sensorineural hearing impairment (SNHI) varies across populations. In Mongolia, previous studies have shown a lower prevalence of GJB2 mutations and a higher frequency of variants in other deafness-related genes. This study aimed to investigate the genetic variants associated with idiopathic SNHI in Mongolian patients. Methods: We utilized the next-generation sequencing for investigating the causative mutations in 99 Mongolian patients with SNHI. Results: We identified pathogenic variants in 53 of the 99 SNHI patients (54%), with SLC26A4 being the most frequently mutated gene. The c.919-2A&gt;G variant in SLC26A4 was the most prevalent, accounting for 46.2% of the mutant alleles. In addition, we identified 19 other known and 21 novel mutations in a total of 21 SNHI genes in autosomal recessive or dominant inheritance patterns. Conclusions: Our findings expand the understanding of the genetic landscape of SNHI in Mongolia and highlight the importance of considering population-specific variations in genetic testing and counseling for SNHI.<\/jats:p>","DOI":"10.3390\/genes15091227","type":"journal-article","created":{"date-parts":[[2024,9,20]],"date-time":"2024-09-20T04:31:23Z","timestamp":1726806683000},"page":"1227","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Genetic Basis of Hearing Loss in Mongolian Patients: A Next-Generation Sequencing Study"],"prefix":"10.3390","volume":"15","author":[{"given":"Bayasgalan","family":"Gombojav","sequence":"first","affiliation":[{"name":"Department of Epidemiology and Biostatistics, School of Public Health, Mongolian National University of Medical Sciences, Ulaanbaatar 14210, Mongolia"},{"name":"Healthy Twin Registry of Mongolia, Ulaanbaatar 14210, Mongolia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jargalkhuu","family":"Erdenechuluun","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, School of Medicine, Mongolian National University of Medical Sciences, Ulaanbaatar 14170, Mongolia"},{"name":"The EMJJ Otolaryngology Hospital, Ulaanbaatar 14210, Mongolia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zaya","family":"Makhbal","sequence":"additional","affiliation":[{"name":"The EMJJ Otolaryngology Hospital, Ulaanbaatar 14210, Mongolia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9524-3667","authenticated-orcid":false,"given":"Narandalai","family":"Danshiitsoodol","sequence":"additional","affiliation":[{"name":"Healthy Twin Registry of Mongolia, Ulaanbaatar 14210, Mongolia"},{"name":"Department of Probiotic Science for Preventive Medicine, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima 7348551, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erkhembulgan","family":"Purevdorj","sequence":"additional","affiliation":[{"name":"Healthy Twin Registry of Mongolia, Ulaanbaatar 14210, Mongolia"},{"name":"Department of Genetics, School of Biomedicine, Mongolian National University of Medical Sciences, Ulaanbaatar 14210, Mongolia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maralgoo","family":"Jargalmaa","sequence":"additional","affiliation":[{"name":"The EMJJ Otolaryngology Hospital, Ulaanbaatar 14210, Mongolia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tserendulam","family":"Batsaikhan","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, School of Medicine, Mongolian National University of Medical Sciences, Ulaanbaatar 14170, Mongolia"},{"name":"The EMJJ Otolaryngology Hospital, Ulaanbaatar 14210, Mongolia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pei-Hsuan","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, National Taiwan University Hospital, Taipei 100225, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yue-Sheng","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, National Taiwan University Hospital, Taipei 100225, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ming-Yu","family":"Lo","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, National Taiwan University Hospital, Taipei 100225, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hsin-Yi","family":"Tseng","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, National Taiwan University Hospital, Taipei 100225, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6150-4577","authenticated-orcid":false,"given":"Cheng-Yu","family":"Tsai","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, National Taiwan University Hospital, Taipei 100225, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5047-2204","authenticated-orcid":false,"given":"Chen-Chi","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, National Taiwan University Hospital, Taipei 100225, Taiwan"},{"name":"Department of Medical Research, National Taiwan University Hospital Hsin-Chu Branch, Hsinchu 30261, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,9,20]]},"reference":[{"key":"ref_1","unstructured":"World Health Organization (2024, September 05). 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