Diagnostic pitfalls for GJB 2 ‐related hearing loss: A novel deletion detected by Array‐ CGH analysis in a Japanese patient with congenital profound hearing loss

Key Clinical Message Here, we report a novel deletion (copy number variation: CNV) in the GJB 2 gene observed in a Japanese hearing loss patient. The deleted segment started in the middle of the GJB 2 gene, but the GJB 6 gene remained intact. This partial deletion in the GJB 2 gene highlights the need for further improvements in GJB 2 screening.