Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles.
The nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant genetic disease characterized by numerous basal cell carcinomas, odontogenic keratocysts of the jaws, palmar and plantal pits, skeletal abnormalities, and calcification of the falx cerebri. The gene responsible for this syndrome is the PTCH tumor suppressor gene encoding for the sonic hedgehog receptor. In this paper, we report thirteen novel mutations identified in the first screening of NBCCS patients in Italy. Except for p.T230P and p.F505_L506delinsLR, all the other mutations are predicted to determine a premature truncation of the protein.
Savino
Maria
M
Servizio di Genetica Medica, IRCCS-Ospedale CSS, San Giovanni Rotondo, Italy. savoia@tigem.it
d'Apolito
Maria
M
Formica
Vincenza
V
Baorda
Filomena
F
Mari
Francesca
F
Renieri
Alessandra
A
Carabba
Enrico
E
Tarantino
Enrico
E
Andreucci
Elena
E
Belli
Serena
S
Lo Muzio
Lorenzo
L
Dallapiccola
Bruno
B
Zelante
Leopoldo
L
Savoia
Anna
A
D000483:Alleles; D000595:Amino Acid Sequence; D001478:Basal Cell Nevus Syndrome / Q000235:genetics*; D001483:Base Sequence; D018389:Codon, Nonsense / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D020440:Gene Duplication; D005820:Genetic Testing; D006801:Humans; D007558:Italy; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D010375:Pedigree; D022821:RNA Splice Sites / Q000235:genetics; D011956:Receptors, Cell Surface / Q000737:chemistry / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics
D018389:Codon, Nonsense; C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D022821:RNA Splice Sites; D011956:Receptors, Cell Surface