A new germline mutation of the PTCH gene in a Japanese patient with nevoid basal cell carcinoma syndrome associated with meningioma.

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.

• Authors: Genshu Tate, Min Li, Takao Suzuki, Toshiyuki Mitsuya
• Journal: Japanese journal of clinical oncology (Jpn J Clin Oncol) Vol. 33 Issue 1 Pg. 47-50 (Jan 2003) ISSN: 0368-2811 [Print] England
• PMID: 12604725 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Membrane Proteins
• PTCH1 protein, human
• Patched Receptors
• Patched-1 Receptor
• Receptors, Cell Surface

Topics

• Basal Cell Nevus Syndrome (complications, genetics)
• Family Health
• Female
• Germ-Line Mutation
• Humans
• Membrane Proteins (genetics)
• Meningeal Neoplasms (complications)
• Meningioma (complications)
• Middle Aged
• Patched Receptors
• Patched-1 Receptor
• Pedigree
• Polymerase Chain Reaction
• Receptors, Cell Surface