A new germline mutation of the PTCH gene in a Japanese patient with nevoid basal cell carcinoma syndrome associated with meningioma.
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.
Tate
Genshu
G
Department of Surgical Pathology, Showa University Fujigaoka Hospital, Yokohama, Japan.
Li
Min
M
Suzuki
Takao
T
Mitsuya
Toshiyuki
T
D001478:Basal Cell Nevus Syndrome / Q000150:complications / Q000235:genetics*; D005192:Family Health; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D008577:Meningeal Neoplasms / Q000150:complications*; D008579:Meningioma / Q000150:complications*; D008875:Middle Aged; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011956:Receptors, Cell Surface
D008565:Membrane Proteins; C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface