A New Germline Mutation of the PTCH Gene in a Japanese Patient with Nevoid Basal Cell Carcinoma Syndrome Associated with Meningioma
Open Access
- 1 January 2003
- journal article
- research article
- Published by Oxford University Press (OUP) in Japanese Journal of Clinical Oncology
- Vol. 33 (1) , 47-50
- https://doi.org/10.1093/jjco/hyg005
Abstract
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.Keywords
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