Detection of SMO gene mutations in odontogenic keratocyst.
10.3760/cma.j.cn112144-20211214-00547
- VernacularTitle:牙源性角化囊肿SMO基因突变检测
- Author:
Jie Mei ZHAI
1
;
Shan WANG
2
;
Ying Ying HONG
3
;
Jia Fei QU
4
;
Chun YANG
2
;
Tie Jun LI
1
Author Information
1. Department of Oral Pathology, Peking University School and Hospital of Stomatology & National Center of Stomatology & National Clinical Research Center for Oral Diseases & National Engineering Research Center of Oral Biomaterials and Digital Medical Devices & Beijing Key Laboratory of Digital Stomatology, Beijing 100081, China.
2. Department of Basic Science, School of Stomatology, Kunming Medical University, Kunming 650500, China.
3. First Clinical Division, Peking University School and Hospital of Stomatology & National Center of Stomatology & National Clinical Research Center for Oral Diseases & National Engineering Laboratory for Digital and Material Technology of Stomatology & Beijing Key Laboratory of Digital Stomatology, Beijing 100081, China.
4. Department of International VIP Dental Clinic, Tianjin Stomatological Hospital, Tianjin Key Laboratory of Oral and Maxillofacial Function Reconstruction, Tianjin 300041, China.
- Publication Type:Journal Article
- MeSH:
Basal Cell Nevus Syndrome/genetics*;
Female;
Humans;
Male;
Mutation;
Odontogenic Cysts/genetics*;
Odontogenic Tumors/genetics*;
Smoothened Receptor/genetics*
- From:
Chinese Journal of Stomatology
2022;57(2):149-154
- CountryChina
- Language:Chinese
-
Abstract:
Objective: To detect the SMO mutations in odontogenic keratocyst (OKC) and to explore the mechanism behind. Methods: Patients with OKC who received treatment in the Department of Oral and Maxillofacial Surgery, School and Hospital of Stomatology,Peking University, from September 2012 to June 2017 were enrolled. OKC samples from 10 patients diagnosed as naevoid basal cell carcinoma syndrome (NBCCS)-related OKC (4 females and 6 males) and 20 patients diagnosed as sporadic OKC (7 females and 13 males) were collected. Genomic DNAs were extracted from fibrous capsules and epithelial lining respectively. SMO mutations were detected and analyzed by Sanger sequencing. Results: Three SMO mutations were found in one NBCCS-associated OKC who carrying c.2081C>G (p.P694R) mutation) and two sporadic OKC who carrying c.907C>T (p.L303F) mutation and c.1247_1248delinsAA (p.G416E), respectively), among which the first two mutations were novel mutations that had not been reported before. Besides, two mutations in sporadic OKC were not paired with PTCH1 mutations. Conclusions: In addition to PTCH1 gene mutations, SMO gene mutations also exist in OKC which might be related to the development of OKC.
