Novel mutations identified in the WNT10A gene and implant rehabilitation of patients with severe tooth agenesis
10.12016/j.issn.2096-1456.2022.10.007
- Author:
JIANG Xinke
1
,
2
,
3
,
4
,
5
,
6
;
YU Kang
2
,
3
,
4
,
5
,
6
,
7
;
ZHOU Mengqi
2
,
3
,
4
,
5
,
6
,
7
;
WU Yiqun
2
,
3
,
4
,
5
,
6
,
7
;
WANG Feng
1
,
2
,
3
,
4
,
5
,
6
Author Information
1. Department of Oral Implantology, Shanghai Ninth People&rsquo
2. s Hospital, Shanghai Jiao Tong University School of Medicine &
3. College of Stomatology, Shanghai Jiao Tong University &
4. National Center for Stomatology &
5. National Clinical Research Center for Oral Diseases &
6. Shanghai Key Laboratory of Stomatology
7. Department of Second Dental Center, Shanghai Ninth People&rsquo
- Publication Type:Journal Article
- Keywords:
congenital tooth agenesis;
anodontia;
ectodermal dysplasia;
WNT10A gene;
gene mutation;
Sanger sequencing;
implant restoration;
zygomatic implant approach
- From:
Journal of Prevention and Treatment for Stomatological Diseases
2022;30(10):724-732
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To detect WNT10A gene mutations in patients with oligodontia or anodontia (≥6 teeth missing) and analyze their dental phenotype.
Methods:Patients with oligodontia or anodontia were enrolled from the clinic for oral examination, genetic history collection and whole exon sequencing, and patients with WNT10A gene mutations were included. Sanger sequencing was utilized to validate the WNT10A gene variations in probands and family members compared with the normal sequence. The pathogenicity of WNT10A mutations was evaluated by functional prediction, conservation analysis and structure prediction of protein mutants. Implant rehabilitation was applied to restore the patients' oral function.
Results: Five WNT10A gene mutations were detected in six unrelated patients, and c.26G>A (p. Trp9X) and c.1036delT (p. Cys346fs) were novel mutations with pathogenic potential. The mean number of missing teeth was (15.33±8.64) per case. The most frequently missing permanent teeth were maxillary canines (100%), and the least frequently missing teeth were mandibular first molars (25%). Implant rehabilitation was applied in five patients, and patients were found to have ideal implant osseointegration and functional restoration.
Conclusion : This study identified novel WNT10A gene pathogenic variants, enriching the WNT10A gene spectrum and providing new evidence for genetic diagnosis and prenatal consultation. Implant rehabilitation was also proven to be a treatment option for these patients.
