THE DISCOVERY that allele variants of GJB2, the gene that encodes the protein connexin 26 (Cx26), cause half of moderate-to-profound nonsyndromic autosomal recessive deafness in many world populations has changed the medical evaluation of the deaf child. The battery of tests that was once routinely ordered, including temporal bone tomography, thyroid function studies, urinalysis, and electrocardiography, can now be replaced with a thorough medical and genetic history, complemented by mutation screening of GJB2. As we prepare to embrace this change, do we, as otolaryngologists, understand the nuances of what is entailed to offer better care to our patients?
Smith RJH. Mutation Screening for DeafnessMore Than Simply Another Diagnostic Test. Arch Otolaryngol Head Neck Surg. 2001;127(8):941–942. doi:10.1001/archotol.127.8.941