Abstract
Aim:
To clarify the role of PTCH in patients with NBCCS-related and non-sydromic keratocystic odontogenic tumors.
Methodology:
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).
Conclusion:
Our findings suggest that defects of PTCH are associated with the pathogenesis of syndromic as well as a subset of non-syndromic KCOTs.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Adult
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Amino Acid Sequence
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Basal Cell Nevus Syndrome / genetics*
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Chromatography, High Pressure Liquid
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Codon, Nonsense / genetics
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Codon, Terminator / genetics
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Conserved Sequence / genetics
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Cytosine
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Exons / genetics
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Female
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Frameshift Mutation / genetics
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Gene Duplication
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Germ-Line Mutation / genetics
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Guanine
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Humans
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Male
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Middle Aged
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Mutation / genetics*
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Mutation, Missense / genetics
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Odontogenic Tumors / genetics*
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Patched Receptors
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Patched-1 Receptor
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Receptors, Cell Surface / genetics*
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Reverse Transcriptase Polymerase Chain Reaction
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Sequence Deletion / genetics
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Syndrome
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Threonine / genetics
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Thymine
Substances
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Codon, Nonsense
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Codon, Terminator
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PTCH1 protein, human
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Patched Receptors
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Patched-1 Receptor
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Receptors, Cell Surface
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Threonine
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Guanine
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Cytosine
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Thymine