[Detection of SMO gene mutations in odontogenic keratocyst].
Zhonghua Kou Qiang Yi Xue Za Zhi
; 57(2): 149-154, 2022 Feb 09.
Article
en Zh
| MEDLINE
| ID: mdl-35152650
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.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Síndrome del Nevo Basocelular
/
Quistes Odontogénicos
/
Tumores Odontogénicos
Tipo de estudio:
Diagnostic_studies
Límite:
Female
/
Humans
/
Male
Idioma:
Zh
Revista:
Zhonghua Kou Qiang Yi Xue Za Zhi
Asunto de la revista:
ODONTOLOGIA
Año:
2022
Tipo del documento:
Article