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Mutations in the  GJB2  gene, which encodes connexin 26, are a frequent cause of congenital non-syndromic sensorineural hearing loss. Two large deletions, del( GJB6 -D13S1830) and del( GJB6 -D13S1854), which truncate  GJB6  (connexin 30), cause hearing loss in individuals homozygous, or compound heterozygous for these deletions or one such deletion and a mutation in  GJB2 . Recently, we have demonstrated that the del( GJB6 -D13S1830) deletion contributes to hearing loss due to an allele-specific lack of  GJB2  mRNA expression and not as a result of digenic inheritance, as was postulated earlier. In the current study we investigated the smaller del( GJB6 -D13S1854) deletion, which disrupts the expression of  GJB2  at the transcriptional level in a manner similar to the more common del( GJB6 -D13S1830) deletion. Interestingly, in the presence of this deletion,  GJB2  expression remains minimally but reproducibly present. The relative allele-specific expression of  GJB2  was assessed by reverse-transcriptase PCR and restriction digestions in three probands who were compound heterozygous for a  GJB2  mutation and del( GJB6 -D13S1854). Each individual carried a different sequence variant in  GJB2 . All three individuals expressed the mutated  GJB2  allele in  trans  with del( GJB6 -D13S1854), but expression of the  GJB2  allele in c is  with the deletion was almost absent. Our study clearly corroborates the hypothesis that the del( GJB6 -D13S1854), similar to the larger and more common del( GJB6 -D13S1830), removes (a) putative  cis -regulatory element(s) upstream of  GJB6  and narrows down the region of location.

Allele-Specific Impairment of GJB2 Expression by GJB6 Deletion del(GJB6-D13S1854)