Figure 6. A novel splice-site mutation of CHM gene. A: Mutation analysis of CHM gene performed by direct sequencing on genomic DNA from patient II:4 showed a new mutation c.819+2T>A. B: The female carrier II:2 resulted heterozygous for the mutation c.819+2T>A. C: Mutation analysis of CHM gene performed by RT-PCR in mRNA from the proband (line 3), female carrier II:2 (line 4), wild type male (line 2), Ladder
100 bp (line 1) and negative reaction control (line 5). D: Sequencing analysis of the 394 bp cDNA reverse transcripted from mRNA patient II:4 show that the whole exon 6 is deleted
as result of splicing mutation c.819+2T>A. E: Consequence of CHM gene splicing mutation c.819+2T>A on mRNA.