Figure 2

Elusive/peculiar mutations. (a) Exon 9 skipping in a patient with the variation 906+4A>G in homozygous state. RT-PCR products between DYSF exons 7 and 12 showing the aberrantly spliced transcript. (a′) Graphical presentation of the sequence composition of the wild-type transcript and the aberrantly spliced transcript with the exon 9 skipping. (b) Partial intron 18 retention in a patient with the variation 1639-6T>A in homozygous state. RT-PCR product sequencing between DYSF exons 12 and 19 showing a 4-bp retention of the intron 18, which is predicted to result in a truncated protein. (c and d) Analysis of the cDNA sequence of patient X546 for (c) fragment 5 (including exon 22) and (d) fragment 4 (including exon 17). Both mutations produce a frameshift. (e) Sequence analysis performed on specific fragments of dysferlin obtained from cDNA and DNA. The same mutation is shown for both cDNA and DNA. The mutated nucleotide is highlighted in blue. All the patients showed the mutation in homozygous state on cDNA and heterozygous state on DNA. The color reproduction of this figure is available on the html full text version of the manuscript.