Mutations in GJB2 (CX26) are the most common cause of hereditary non-syndromic sensorineural hearing loss. If testing for GJB2 (CX26) finds only one mutation, it is possible that this individual is a compound heterozygote for another undetected mutation, because this assay does not explore the possibility of mutations in the majority of intronic and regulatory non-coding regions of GJB2 (CX26) nor examines other genes that may be involved in non-syndromic sensorineural hearing loss.
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