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All GJB2-wildtype affected individuals were sequenced for the coding region of GJB6 gene. The del(GJB6-D13S1830) and del(GJB6-D13S1854) were also tested in all patients. The del(GJB6-D13S1830) mutation was identified at heterozygous state in only one family (1/102) with profound deafness. Analysis of the transmission of this AZD 5438 showed that only the affected individual II-4 carry the del(GJB6-D13S1830) ( Fig. 2). Both of his parents with normal hearing were negative for this deletion suggesting that it might be a de novo mutation. No Mendelian transmission inconsistency was detected by analysis of several microsatellite markers in this family. No other mutation was found in GJB2 or GJB6 genes in this patient. The del(GJB6-D13S1830) was not detected in 99 unrelated control individuals.
Fig. 2.
Pedigree of the Tunisian family harbouring del(GJB6-D13S1830) in GJB6 gene at heterozygous state. Separation of PCR products by electrophoresis in a 2% agarose gel. The fragment sizes corresponding to the deletion and to GJB6 exon 1 are shown on the right. I1, I2, II2, II2 and II3: Wild type (wt); II4: del(GJB6-D13S1830)/wt heterozygote.