A Novel Missense Variant in the CDH23 Gene is Segregated in an Iranian Family with Hearing Loss

Sensorineural hearing loss (SNHL) describes a diverse group of clinically and genetically distinct disorders of the auditory system. SNHL is associated with mutations in up to 150 genes. Among them is Cadherin 23 (CDH23), which is associated with both Usher syndrome and non-syndromic hearing loss. In the current study, we used WES to find the genetic cause of SNHL in an extended Iranian family. WES and subsequent Sanger sequencing confirmed the occurrence of a novel homozygote variant in the CDH23 gene (c.817T>C, p.Tyr273His) in affected individuals of this pedigree and its transmission from the parents. This novel variant in the CDH23 was suggested as the cause of the profound SNHL in this family. Further functional research is needed to confirm the results.