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To date, 155 genes have been reported to be associated with nonsyndromic hearing loss. Recently, a study by Velde et\u00a0al. found that the <jats:italic>IKZF2<\/jats:italic> (OMIM#606234) gene is associated with nonsyndromic hearing loss. In our cohort of nearly 300 patients with undiagnosed hearing loss who underwent WES, we discovered a case harboring a variant in the <jats:italic>IKZF2<\/jats:italic> gene, specifically c.485A\u2009&gt;\u2009C (NM_001387220.1). By investigating the patient's family history and hearing conditions, we subsequently employed Sanger sequencing to validate our findings within the family, confirming that this patient's pathogenic variant is indeed in the <jats:italic>IKZF2<\/jats:italic> gene. Our case provides further robust evidence supporting the association of <jats:italic>IKZF2<\/jats:italic> with nonsyndromic hearing loss.<\/jats:p>","DOI":"10.1002\/ajmg.a.63986","type":"journal-article","created":{"date-parts":[[2025,1,4]],"date-time":"2025-01-04T07:38:22Z","timestamp":1735976302000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Missense Variant in the <scp><i>IKZF2<\/i><\/scp> Gene Identified in a Genetically Undiagnosed Family With Hearing Loss"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-4346-3638","authenticated-orcid":false,"given":"Teng","family":"Zhang","sequence":"first","affiliation":[{"name":"BGI College and Henan Institute of Medical and Pharmaceutical Sciences Zhengzhou University  Zhengzhou 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