|PTCH germline mutations in Chinese nevoid basal cell carcinoma syndrome patients|
|Li, T-J1; Yuan, J-W1; Gu, X-M1; Sun, L-S1; Zhao, H-S2|
|关键词||PTCH mutation nevoid basal cell carcinoma syndrome odontogenic keratocyst|
|WOS标题词||Science & Technology|
|类目[WOS]||Dentistry, Oral Surgery & Medicine|
|研究领域[WOS]||Dentistry, Oral Surgery & Medicine|
|关键词[WOS]||HUMAN HOMOLOG ; PATCHED GENE ; ODONTOGENIC KERATOCYSTS ; GORLIN-SYNDROME ; NEVUS SYNDROME ; JAPANESE PATIENTS ; SENSITIVITY ; DIAGNOSIS ; PHENOTYPE ; HEDGEHOG|
OBJECTIVES: PTCH, the human homologue of the Drosophila segment polarity gene, patched, has been identified as the gene responsible for nevoid basal cell carcinoma syndrome. The aim of this study was to investigate PTCH gene mutation in Chinese patients with nevoid basal cell carcinoma syndrome.
MATERIALS AND METHODS: DNA was isolated from both odontogenic keratocyst tissue and peripheral blood of five patients with syndrome and one patient with only multiple odontogenic keratocysts, and mutational analysis of the PTCH gene performed by direct sequencing after amplification of all 23 exons by polymerase chain reaction (PCR).
RESULTS: A previously reported germline mutation (c.2619C > A) was identified in two familial cases involving the mother and the daughter, with the mother also carrying a novel somatic mutation (c.361_362insGAGC). Three novel germline PTCH mutations (c.1338_1339insGCG, c.331delG and c.1939A > T) were detected in three unrelated patients with syndrome. The patient with multiple odontogenic keratocysts who failed to fulfill the diagnostic criteria of the syndrome also carried a novel germline mutation (c.317T > G).
CONCLUSION: The frequent germline PTCH mutations detected in our series provide further evidence for the crucial role of PTCH in the pathogenesis of nevoid basal cell carcinoma syndrome in Chinese.
|作者单位||1.Peking Univ, Dept Oral Pathol, Sch Stomatol, Hosp Stomatol, Beijing 100081, Peoples R China|
2.Peking Univ, Hlth Sci Ctr, Ctr Human Dis Genom, Beijing 100081, Peoples R China
|Li, T-J,Yuan, J-W,Gu, X-M,et al. PTCH germline mutations in Chinese nevoid basal cell carcinoma syndrome patients[J]. ORAL DISEASES,2008,14(2):174-179.|
|APA||Li, T-J,Yuan, J-W,Gu, X-M,Sun, L-S,&Zhao, H-S.(2008).PTCH germline mutations in Chinese nevoid basal cell carcinoma syndrome patients.ORAL DISEASES,14(2),174-179.|
|MLA||Li, T-J,et al."PTCH germline mutations in Chinese nevoid basal cell carcinoma syndrome patients".ORAL DISEASES 14.2(2008):174-179.|