Identification of known and novel PTCH mutations in both syndromic and non-syndromic keratocystic odontogenic tumors.
OBJECTIVE
To clarify the role of PTCH in patients with NBCCS-related and non-sydromic keratocystic odontogenic tumors.


METHODS
Mutation analysis was undertaken in 8 sporadic and 4 NBCCS-associated KCOTs.


RESULTS
Four novel and two known mutations were identified in 2 sporadic and 3 syndromic cases, two of which being germline mutations (c.2179delT, c.2824delC) and 4 somatic mutations (c.3162dupG, c.1362-1374dup, c.1012 C>T, c.403C>T).


CONCLUSIONS
Our findings suggest that defects of PTCH are associated with the pathogenesis of syndromic as well as a subset of non-syndromic KCOTs.
Pan
Shuang
S
Department of Oral Pathology, Peking University School and Hospital of Stomatology, Beijing, China.
Xu
Li-li
LL
Sun
Li-sha
LS
Li
Tie-jun
TJ
D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D001478:Basal Cell Nevus Syndrome / Q000235:genetics*; D002851:Chromatography, High Pressure Liquid; D018389:Codon, Nonsense / Q000235:genetics; D018388:Codon, Terminator / Q000235:genetics; D017124:Conserved Sequence / Q000235:genetics; D003596:Cytosine; D005091:Exons / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics; D020440:Gene Duplication; D018095:Germ-Line Mutation / Q000235:genetics; D006147:Guanine; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D009808:Odontogenic Tumors / Q000235:genetics*; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017384:Sequence Deletion / Q000235:genetics; D013577:Syndrome; D013912:Threonine / Q000235:genetics; D013941:Thymine
D018389:Codon, Nonsense; D018388:Codon, Terminator; C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface; D013912:Threonine; D006147:Guanine; D003596:Cytosine; D013941:Thymine