European Journal of Human Genetics

FIGURE 4

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A splice-site mutation and overexpression of MYO6 cause a similar phenotype in two families with autosomal dominant hearing loss

Nele Hilgert, Vedat Topsakal, Joost van Dinther, Erwin Offeciers, Paul Van de Heyning and Guy Van Camp

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Figure 4.

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RT-PCR of a fragment containing the cryptic exon in family 2. RNA was obtained from lymphoblasts. Two separate bands could be identified for both patients, but for none of the unaffected family members: the wild-type fragment and a fragment about 100 bp larger, containing the cryptic exon. (a) PCR obtained by using primer set 1, showing the wild-type fragment of 1141 bp and the larger fragment of approx1240 bp. (b) Nested PCR by use of primer set 2 and nested primer set 3, resulting in a 161 bp wild-type fragment and a 269 bp fragment carrying the mutation. Above the 269 bp fragment, another fragment was visible, but we did not succeed in sequencing this fragment to obtain the exact sequence.

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