This study, together with previous works describing other large deletions involving CRYL1 (Figure 1) in DFNB1A patients, demonstrates that genetic testing of the GJB2 locus, even if complemented with approaches targeting the known GJB6 and CRYL1 deletions already described to alter GJB2 expression, may leave a significant proportion of DFNB1A patients undiagnosed. This evidence concerns the gene GJB6 and autosomal recessive nonsyndromic hearing loss 1A.