Back issues No.3 - 2000 / Case Report  

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A Novel Nonsense Mutation at the Human PTCH Gene in a Patient with Nevoid Basal Cell Carcinoma
Kuo-Liang Cheng, Shwu-Fen Chang, Chung-Hong Hu, Woan-Ruoh Lee
Dermatol Sinica 18: 255-259, 2000

The nevoid basal cell carcinoma syndrome (NBCCS) is a highly penetrative but variably expressed autosomal-dominant disorder. The major manifestations are basal cell carcinomas, odontogenic keratinocysts, dyskeratotic pitting of the palms and soles, intracranial calcification, and other developmental skeletal abnomalities. The disorder has been suggested to result from human ptch gene mutation. Here we show a NBCCS patient with a G-to-A substitution at nucleotide 403 position of the ptch gene resulting in premature termination at codon 131. This finding provides further support for the important tumor suppressor activity of the ptch gene in the development of human cancer.

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