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Figure 1. Three somatic mutations of PTCH identified in 3 non-syndromic keratocysts. Sequences of both peripheral blood (left) and cyst (right) are shown. (A) In non-syndromic cyst #2, a dupliction of 6 nucleotides (highlighted in small box) caused a duplicating insertion of valine and cysteine after codon 1043 in exon 18, but the patient’s peripheral blood showed the wild-type sequence. (B) Sequencing of exon 10 of non-syndromic cyst #7 revealed a deletion of 4 nucleotides (highlighted in small box), causing a frameshift and introducing a stop condon at amino acid residue 454. This mutation was absent in the patient’s peripheral blood. (C) Non-syndromic cyst #9 showed a missense mutation (G>T, arrow) in codon 1305, causing a change from aspartic acid to tyrosine, but the patient’s peripheral blood showed the wild-type sequence.
