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PTCH Mutations in Sporadic and Gorlin-syndrome-related Odontogenic Keratocysts

¹ Department of Oral Pathology, Hospital and School of Stomatology, Peking University, 22 South Zhongguancun Avenue, Haidian District, Beijing 100081, PR China; and
² Center for Human Disease Genomics, Peking University Health Science Center

View larger version (47K): [in a new window]   Figure 1. Three somatic mutations of PTCH identified in 3 non-syndromic keratocysts. Sequences of both peripheral blood (left) and cyst (right) are shown. (A) In non-syndromic cyst #2, a dupliction of 6 nucleotides (highlighted in small box) caused a duplicating insertion of valine and cysteine after codon 1043 in exon 18, but the patient’s peripheral blood showed the wild-type sequence. (B) Sequencing of exon 10 of non-syndromic cyst #7 revealed a deletion of 4 nucleotides (highlighted in small box), causing a frameshift and introducing a stop condon at amino acid residue 454. This mutation was absent in the patient’s peripheral blood. (C) Non-syndromic cyst #9 showed a missense mutation (G>T, arrow) in codon 1305, causing a change from aspartic acid to tyrosine, but the patient’s peripheral blood showed the wild-type sequence.

View larger version (58K): [in a new window]   Figure 2. Two germ-line mutations of the PTCH gene identified in two patients with Gorlin syndrome (A,B). Sequences of the wild-type control (left), the patient’s peripheral blood (middle), and cyst (right) are shown. (A) The peripheral blood and cyst of syndrome patient #1 showed a C to A substitution (arrows), introducing a stop condon at amino acid residue 873 in exon 16. (B) Sequencing of exon 9 revealed an insertion of 3 nucleotides (highlighted in small box) between codons 446 and 447, causing an insertion of alanine in the peripheral blood and cyst of syndrome patient #2. (C) MluI digestion of exon 9 PCR products from the cyst (P1) and peripheral blood (P2) of syndrome patient #2 and the unrelated control DNAs (C1-C3). The insertion created a restriction site with fragments of 97 and 191 bp, as well as the undigested fragment of 284 bp. In the unrelated controls, only the 284-bp fragment was seen. MW, molecular-weight ladder; *enzyme digest.