{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T13:33:15Z","timestamp":1768311195235,"version":"3.49.0"},"reference-count":25,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,12,5]],"date-time":"2025-12-05T00:00:00Z","timestamp":1764892800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2025,12,5]],"date-time":"2025-12-05T00:00:00Z","timestamp":1764892800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82171158"],"award-info":[{"award-number":["82171158"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82271177"],"award-info":[{"award-number":["82271177"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82371858"],"award-info":[{"award-number":["82371858"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Heterozygous variant in\n                      <jats:italic>HOMER2<\/jats:italic>\n                      is associated with autosomal dominant nonsyndromic hearing loss (ADNSHL), designated as the locus of DFNA68. Only five pathogenic variants in\n                      <jats:italic>HOMER2<\/jats:italic>\n                      have been identified to date.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Aims\/Objectives<\/jats:title>\n                    <jats:p>The aim of this study is to investigate the molecular etiology of ADNSHL in a four\u2010generation Chinese family.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Material and Methods<\/jats:title>\n                    <jats:p>Whole exome sequencing analysis was conducted to detect the disease\u2010causing variant. Co\u2010segregation analysis was performed using Sanger sequencing.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The family exhibited autosomal dominant, progressive, post\u2010lingual, nonsyndromic sensorineural hearing loss, similar to that observed in previously reported DFNA68 families. Unlike the initially high\u2010frequency hearing loss observed in the previously reported families, the young proband in our study (IV:4, 18\u2009years old) exhibited typical low\u2010frequency hearing loss. A novel frameshift variant, c.1023_1029del (p.Asp342ArgfsTer54), in\n                      <jats:italic>HOMER2<\/jats:italic>\n                      was identified, which co\u2010segregated with the hearing loss phenotype in the family. The variant deletes 7 nucleotides, leading to an extended incorrect protein C terminus. Based on the American College of Medical Genetics and Genomics guidelines, the variant c.1023_1029del (p.Asp342ArgfsTer54) is classified as likely pathogenic.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions and Significance<\/jats:title>\n                    <jats:p>\n                      These findings may help expand the spectrum of pathogenic variants of the\n                      <jats:italic>HOMER2<\/jats:italic>\n                      gene and provide a molecular interpretation for these patients with ADNSHL.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/jcla.70137","type":"journal-article","created":{"date-parts":[[2025,12,6]],"date-time":"2025-12-06T07:09:26Z","timestamp":1765004966000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Novel Frameshift Variant c.1023_1029del (p.\n                    <scp>Asp342ArgfsTer54<\/scp>\n                    ) Leading to Extended Incorrect Protein C Termini in\n                    <scp>\n                      <i>HOMER2<\/i>\n                    <\/scp>\n                    Causing Autosomal Dominant Nonsyndromic Hearing Loss"],"prefix":"10.1002","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-5552-5428","authenticated-orcid":false,"given":"Li\u2010Ting","family":"Peng","sequence":"first","affiliation":[{"name":"Department of Otolaryngology The PLA Rocket Force Characteristic Medical Center  Beijing China"},{"name":"Chinese Institute for Brain Research  Beijing China"},{"name":"Postgraduate Training Base of Jinzhou Medical University (The PLA Rocket Force Characteristic Medical Center)  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei\u2010Qian","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology The PLA Rocket Force Characteristic Medical Center  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9324-0078","authenticated-orcid":false,"given":"Sha\u2010Sha","family":"Huang","sequence":"additional","affiliation":[{"name":"College of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Chinese PLA Medical School  Beijing China"},{"name":"National Clinical Research Center for Otolaryngologic Diseases  Beijing China"},{"name":"Beijing Key Lab of Hearing Impairment Prevention and Treatment, Ministry of Education  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology The PLA Rocket Force Characteristic Medical Center  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Su\u2010Yan","family":"Yang","sequence":"additional","affiliation":[{"name":"College of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Chinese PLA Medical School  Beijing China"},{"name":"National Clinical Research Center for Otolaryngologic Diseases  Beijing China"},{"name":"Beijing Key Lab of Hearing Impairment Prevention and Treatment, Ministry of Education  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dong\u2010Yang","family":"Kang","sequence":"additional","affiliation":[{"name":"College of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Chinese PLA Medical School  Beijing China"},{"name":"National Clinical Research Center for Otolaryngologic Diseases  Beijing China"},{"name":"Beijing Key Lab of Hearing Impairment Prevention and Treatment, Ministry of Education  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiang","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology The PLA Rocket Force Characteristic Medical Center  Beijing China"},{"name":"Chinese Institute for Brain Research  Beijing China"},{"name":"Postgraduate Training Base of Jinzhou Medical University (The PLA Rocket Force Characteristic Medical Center)  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4305-1206","authenticated-orcid":false,"given":"Xue","family":"Gao","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology The PLA Rocket Force Characteristic Medical Center  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7936-4776","authenticated-orcid":false,"given":"Yong\u2010Yi","family":"Yuan","sequence":"additional","affiliation":[{"name":"College of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Chinese PLA Medical School  Beijing China"},{"name":"National Clinical Research Center for Otolaryngologic Diseases  Beijing China"},{"name":"Beijing Key Lab of Hearing Impairment Prevention and Treatment, Ministry of Education  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jin\u2010Cao","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology The PLA Rocket Force Characteristic Medical Center  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,12,5]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.heares.2011.05.021"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1005137"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M114.577221"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471\u20102202\u201010\u201025"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neulet.2009.11.003"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes12030411"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13422"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes11111237"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431\u2010023\u201001374\u20100"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1530\/JOE\u201019\u20100123"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1155\/2017\/4707315"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12920\u2010021\u201001130\u20107"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23630"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/iub.1162"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1186\/gb\u20102007\u20108\u20102\u2010206"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/cne.20116"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.1846\u201013.2014"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.alcohol.2015.03.009"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.3389\/fphar.2015.00028"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/adb.12252"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuropharm.2017.11.001"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1055\/s\u20100040\u20101716400"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1507\/endocrj.EJ16\u20100280"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu111"}],"container-title":["Journal of Clinical Laboratory Analysis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcla.70137","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jcla.70137","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcla.70137","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T08:23:58Z","timestamp":1768292638000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jcla.70137"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12,5]]},"references-count":25,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1002\/jcla.70137"],"URL":"https:\/\/doi.org\/10.1002\/jcla.70137","archive":["Portico"],"relation":{},"ISSN":["0887-8013","1098-2825"],"issn-type":[{"value":"0887-8013","type":"print"},{"value":"1098-2825","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,12,5]]},"assertion":[{"value":"2025-01-31","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-11-13","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-12-05","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70137"}}