New Mutation of the PTCH Gene in Nevoid Basal-Cell Carcinoma Syndrome With West Syndrome

Germline PTCH1 mutations in Japanese basal cell nevus syndrome patients

“…11 All available PTCH1 molecular data of the Japanese BCNS patients also indicated a dispersed distribution of mutations in all regions and suggested no founder effect (Table 3). 16,[18][19][20][21][22][23][24][25][26] The typical symptoms of the Japanese BCNS patients are characterized by palmar and plantar pits, odontogenic keratocysts and abnormal skeletons and are sometimes accompanied by BCC, especially in elderly patients. On the other hand, BCC is observed at a frequency of up to 97% in Caucasian BCNS patients with the same symptoms as the Japanese.…”

Gorlin syndrome (nevoid basal cell carcinoma syndrome): Update and literature review

“…The most common type of PTCH1 mutation is an insertion or deletion that causes a frameshift and leads to premature termination of the PTCH1 translation. We have identified diverse PTCH1 mutations in Japanese Gorlin syndrome patients . Despite exhaustive analysis, PTCH1 mutation was not able to be identified in some patients.…”

Novel PTCH1 mutations in Japanese Nevoid basal cell carcinoma syndrome patients: two familial and three sporadic cases including the first Japanese patient with medulloblastoma

“…15,[17][18][19][20][21][22][23][24][25][26][27][28] Table 3 summarizes the spectrum of PTCH1 mutations and phenotypes of Japanese NBCCS patients. Overall 56 subjects who fulfilled the criteria for NBCCS were analyzed.…”