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To the best of our knowledge, there are no reports of\n                      <jats:italic>DIAPH3<\/jats:italic>\n                      variants causing sensorineural hearing loss. Here, we present a family with late\u2010onset sensorineural hearing loss as an autosomal dominant trait, caused by a novel\n                      <jats:italic>DIAPH3<\/jats:italic>\n                      variant.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Audiological examinations were conducted on family members. Whole exome sequencing was performed on the proband to detect candidate genes, and Sanger sequencing was used for other available family members to confirm the causative variation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The\n                      <jats:italic>DIAPH3<\/jats:italic>\n                      c.1472A&gt;G variant was identified as a disease\u2010causing mutation in a Chinese family with late\u2010onset hearing loss. Clinically, manifestations were bilateral sensorineural hearing loss (with pure\u2010tone thresholds broadly correlating with speech discrimination scores), abnormal auditory brainstem response (ABR), and absent distortion product otoacoustic emission (DPOAE), without abnormalities in other organs or systems.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      We first identified the likely pathogenic variant\n                      <jats:italic>DIAPH3<\/jats:italic>\n                      c.1472A&gt;G in a Chinese family with non\u2010syndromic genetic hearing loss. This point mutation of the\n                      <jats:italic>DIAPH3<\/jats:italic>\n                      gene is associated with late\u2010onset bilateral sensorineural hearing loss, distinguishing it from the auditory neuropathy previously reported in other studies. Our findings expand the phenotypic spectrum of\n                      <jats:italic>DIAPH3<\/jats:italic>\n                      \u2010related disorders and underscore the importance of integrating genetic, electrophysiological, and molecular data to refine diagnostic and therapeutic strategies.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.70179","type":"journal-article","created":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T16:41:23Z","timestamp":1767976883000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Identification of a Novel Likely Pathogenic Variant of\n                    <i>DIAPH3<\/i>\n                    Associated With New Phenotype of Sensorineural Hearing Loss"],"prefix":"10.1002","volume":"14","author":[{"given":"Lingling","family":"Zeng","sequence":"first","affiliation":[{"name":"Department of Otolaryngology\u2010Head and Neck Surgery The First Medical Center of Chinese PLA General Hospital, Medical School of Chinese PLA  Beijing China"},{"name":"Department of Otolaryngology\u2010Head and Neck Surgery, Tongji Hospital, Tongji Medical College Huazhong University of Science and Technology  Wuhan Hubei China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qiuchen","family":"Zheng","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2010Head and Neck Surgery The First Medical Center of Chinese PLA General Hospital, Medical School of Chinese PLA  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiedong","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2010Head and Neck Surgery The First Medical Center of Chinese PLA General Hospital, Medical School of Chinese PLA  Beijing 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China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fei","family":"Ning","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2010Head and Neck Surgery The First Medical Center of Chinese PLA General Hospital, Medical School of Chinese PLA  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lan","family":"Bai","sequence":"additional","affiliation":[{"name":"Ordos Maternal and Child Health Hospital  Ordos City Inner Mongolia China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qiujing","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2010Head and Neck Surgery The First Medical Center of Chinese PLA General Hospital, Medical School of Chinese PLA  Beijing 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