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Pathogenic and likely pathogenic variants in the\n                      <jats:italic>LHX3<\/jats:italic>\n                      gene are infrequent and result in a rare syndrome known as combined pituitary hormone deficiency-3, CPHD3.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We have studied hearing and vestibular functions in a group of eight individuals, aged 8\u201336\u00a0years, all of whom were homozygous for a specific variant in the\n                      <jats:italic>LHX3<\/jats:italic>\n                      gene at chromosome 9q34. We reexamined the results of consecutive hearing tests from newborn until April 2024.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Our data showed that all the tested patients had progressive sensorineural hearing deficiency ranging from moderately severe to complete loss. We have performed vestibular testing in six patients and, for the first time, demonstrated that a mutation in the\n                      <jats:italic>LHX3<\/jats:italic>\n                      gene not only affects hearing, but is also associated with vestibular impairment.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      The human pathogenic variant c.455-2A\u2009&gt;\u2009G in the\n                      <jats:italic>LHX3<\/jats:italic>\n                      gene on chromosome 9q34, which present as a founder mutation in the population in northern Sweden, is responsible for phenotypes associated with progressive hearing loss and balance impairment. These findings prove that the\n                      <jats:italic>LHX3<\/jats:italic>\n                      gene is crucial for the function of both the cochlear and vestibular organs.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s12920-024-02049-5","type":"journal-article","created":{"date-parts":[[2024,11,15]],"date-time":"2024-11-15T07:17:32Z","timestamp":1731655052000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Hearing impairment and vestibular function in patients with a pathogenic splice variant in the LHX3 gene"],"prefix":"10.1186","volume":"17","author":[{"given":"\u00c5sa","family":"Kjellgren","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elenor","family":"Lundgren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irina","family":"Golovleva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Berit","family":"Kristr\u00f6m","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9031-565X","authenticated-orcid":false,"given":"Mimmi","family":"Werner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,11,15]]},"reference":[{"key":"2049_CR1","doi-asserted-by":"publisher","unstructured":"Ahern S, Daniels M, Bhangoo A. 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Approval was granted by the National Ethics Committee of Sweden (2023\u201302-10\/2022\u201306806-01).Informed consent was obtained from all individual adult participants, and from all children\u00b4s parents included in the study.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"270"}}