Deletion analysis is used to detect the 342kb deletion in the GJB6 (CX30) gene. Mutations in GJB6 (CX30) are associated with hereditary non-syndromic sensorineural hearing loss. The 342kb deletion spans the GJB6 (CX30) gene, but not the neighboring GJB2 (CX26) gene. This GJB6 342kb deletion has been found either as a compound heterozygote with a GJB2 (CX26) mutation or as a homozygous deletion in some patients with hereditary non-syndromic sensorineural hearing loss.
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