A Missense Variant in the IKZF2 Gene Identified in a Genetically Undiagnosed Family With Hearing Loss

Hearing loss is one of the conditions characterized by a high degree of genetic heterogeneity, and whole exome sequencing (WES) serves as a key method for identifying pathogenic variants. To date, 155 genes have been reported to be associated with nonsyndromic hearing loss. Recently, a study by Velde et al. found that the IKZF2 (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 IKZF2 gene, specifically c.485A > C (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 IKZF2 gene. Our case provides further robust evidence supporting the association of IKZF2 with nonsyndromic hearing loss.