Germline mutations of the PTCH gene in Japanese patients with nevoid basalcell carcinoma syndrome

Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disor der characterized by developmental and skeletal anomalies. palmo-plantar pi ts, odontogenic keratocysts, ectopic calcification, and occurrence of vario us types of tumors including basal cell carcinoma. Recent evidence has indi cated that the human homologue of a Drosophila segment polarity gene, PTCH, is a NBCCS susceptibility gene. In the study presented here, we detected t wo novel mutations of the PTCH gene. 1805X/2395delC and Y93X/C297A, in two unrelated Japanese patients. Early protection of the skin from the sunlight is important to the prevention of BCC development in NBCCS patients. Genet ic analysis of the PTCH gene is essential for the early, definitive diagnos is of NBCCS, especially before the expression of clinical manifestations is complete. (C) 2001 Elsevier Science Ireland Ltd. All rights reserved.