Figure 1. Relative positions of the primers used in protein truncation test, and the mutations of the CHM gene identified in this study

Horizontal line represents the mRNA and hence cDNA sequence of the CHM gene. Each pair of primers is shown as arrows of the same type: forward primer (rightward arrow) is above the sequence and reverse primer (leftward arrow) is below the sequence. Forward primers for the second round PCR are tailed primers. Open box indicates the position of exon 6. Note that NF2 partly falls within exon 6 and CHM-2FT7myc completely falls within exon 6. Shown below the sequence are the relative positions of the CHM mutations identified. The mutation c.703-1G>C was not found in the cDNA sequence, but is indicated here as located just immediately upstream of exon 6 (in intron 5) for the sake of completeness.