Identification of known and novel PTCH mutations in both syndromic and non-syndromic keratocystic odontogenic tumors.
- Author:
Shuang PAN
1
;
Li-li XU
;
Li-sha SUN
;
Tie-jun LI
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Adult; Amino Acid Sequence; Basal Cell Nevus Syndrome; genetics; Chromatography, High Pressure Liquid; Codon, Nonsense; genetics; Codon, Terminator; genetics; Conserved Sequence; genetics; Cytosine; Exons; genetics; Female; Frameshift Mutation; genetics; Gene Duplication; Germ-Line Mutation; genetics; Guanine; Humans; Male; Middle Aged; Mutation; genetics; Mutation, Missense; genetics; Odontogenic Tumors; genetics; Patched Receptors; Patched-1 Receptor; Receptors, Cell Surface; genetics; Reverse Transcriptase Polymerase Chain Reaction; Sequence Deletion; genetics; Syndrome; Threonine; genetics; Thymine
- From: International Journal of Oral Science 2009;1(1):34-38
- CountryChina
- Language:English
-
Abstract:
AIMTo clarify the role of PTCH in patients with NBCCS-related and non-sydromic keratocystic odontogenic tumors.
METHODOLOGYMutation analysis was undertaken in 8 sporadic and 4 NBCCS-associated KCOTs.
RESULTSFour 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).
CONCLUSIONOur findings suggest that defects of PTCH are associated with the pathogenesis of syndromic as well as a subset of non-syndromic KCOTs.
