Detection of SMO gene mutations in odontogenic keratocyst / 中华口腔医学杂志
Chinese Journal of Stomatology
;
(12): 149-154, 2022.
Artigo
em Chinês
| WPRIM
| ID: wpr-935841
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:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Síndrome do Nevo Basocelular
/
Cistos Odontogênicos
/
Tumores Odontogênicos
/
Receptor Smoothened
/
Mutação
Tipo de estudo:
Estudo diagnóstico
Limite:
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Stomatology
Ano de publicação:
2022
Tipo de documento:
Artigo
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