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We employed polymerase chain reaction and DNA sequencing analysis to characterize the  PTCH  gene in a Japanese nevoid basal cell carcinoma syndrome (NBCCS) patient suffering from meningioma, multiple basal cell carcinoma and epidermal cysts. Direct sequence analyses revealed a novel single base deletion at nucleotide 2613 in exon 16 (2613delC) in one  PTCH  allele, resulting in the frame shift and the introduction of a premature termination codon in this mutated allele.

A New Germline Mutation of the PTCH Gene in a Japanese Patient with Nevoid Basal Cell Carcinoma Syndrome Associated with Meningioma