{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,21]],"date-time":"2025-11-21T12:37:18Z","timestamp":1763728638722,"version":"build-2065373602"},"reference-count":38,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2023,12,28]],"date-time":"2023-12-28T00:00:00Z","timestamp":1703721600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Rann\u00eds","award":["#217988","#195835","#206806","195835","206806","K08HD086250","T32GM1483838"],"award-info":[{"award-number":["#217988","#195835","#206806","195835","206806","K08HD086250","T32GM1483838"]}]},{"name":"Louma G. 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Current clinical dogma suggests that this phenotype is caused by frequent infections due to the immune deficiency in KS1 and\/or secondary to structural abnormalities of the ear. To clarify some aspects of hearing loss, we collected information on hearing status from 21 individuals with KS1 and found that individuals have both sensorineural and conductive hearing loss, with the average age of presentation being 7 years. Our data suggest that while ear infections and structural abnormalities contribute to the observed hearing loss, these factors do not explain all loss. Using a KS1 mouse model, we found hearing abnormalities from hearing onset, as indicated by auditory brainstem response measurements. In contrast to mouse and human data for CHARGE syndrome, a disorder possessing overlapping clinical features with KS and a well-known cause of hearing loss and structural inner ear abnormalities, there are no apparent structural abnormalities of the cochlea in KS1 mice. The KS1 mice also display diminished distortion product otoacoustic emission levels, which suggests outer hair cell dysfunction. Combining these findings, our data suggests that KMT2D dysfunction causes sensorineural hearing loss compounded with external factors, such as infection.<\/jats:p>","DOI":"10.3390\/genes15010048","type":"journal-article","created":{"date-parts":[[2023,12,28]],"date-time":"2023-12-28T09:56:27Z","timestamp":1703757387000},"page":"48","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["KMT2D Deficiency Causes Sensorineural Hearing Loss in Mice and Humans"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7292-8500","authenticated-orcid":false,"given":"Allison J.","family":"Kalinousky","sequence":"first","affiliation":[{"name":"McKusick-Nathans Department of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, MD 21205, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teresa R.","family":"Luperchio","sequence":"additional","affiliation":[{"name":"McKusick-Nathans Department of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, MD 21205, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katrina M.","family":"Schrode","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology-Head and Neck Surgery and Center for Hearing and Balance, Johns Hopkins School of Medicine, Baltimore, MD 21205, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacqueline R.","family":"Harris","sequence":"additional","affiliation":[{"name":"McKusick-Nathans Department of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, MD 21205, USA"},{"name":"Department of Neurology, Kennedy Krieger Institute, Baltimore, MD 21205, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li","family":"Zhang","sequence":"additional","affiliation":[{"name":"McKusick-Nathans Department of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, MD 21205, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valerie B.","family":"DeLeon","sequence":"additional","affiliation":[{"name":"Department of Anthropology, University of Florida, Gainesville, FL 32610, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5506-8780","authenticated-orcid":false,"given":"Jill A.","family":"Fahrner","sequence":"additional","affiliation":[{"name":"McKusick-Nathans Department of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, MD 21205, USA"},{"name":"Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, MD 21205, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amanda M.","family":"Lauer","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology-Head and Neck Surgery and Center for Hearing and Balance, Johns Hopkins School of Medicine, Baltimore, MD 21205, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hans T.","family":"Bjornsson","sequence":"additional","affiliation":[{"name":"McKusick-Nathans Department of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, MD 21205, USA"},{"name":"Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, MD 21205, USA"},{"name":"Landspitali University Hospital, 102 Reykjavik, Iceland"},{"name":"Faculty of Medicine, University of Iceland, 101 Reykjavik, Iceland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,12,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"R254","DOI":"10.1093\/hmg\/ddz174","article-title":"Mendelian disorders of the epigenetic machinery: Postnatal malleability and therapeutic prospects","volume":"28","author":"Fahrner","year":"2019","journal-title":"Hum. 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