Preliminary study of familial nonsyndromic tooth agenesis caused by ectodysplasin A mutation
10.12016/j.issn.2096-1456.2023.11.002
- Author:
WANG Huihui
1
,
2
;
WU Qing
1
,
2
;
XU Bin
1
,
2
;
LING Qi
3
;
WU Yiqun
4
,
5
Author Information
1. Department of Stomatology, Shanghai Fifth People'
2. s Hospital, Fudan University
3. Shanghai Fengxian Stomatological hospital
4. Department of Second Dental Center Shanghai Ninth People'
5. s Hospital, Shanghai Jiao Tong University School of Medicine, College of Stomatology, Shanghai Jiao Tong University, National Center for Stomatology, National Clinical Research Center for Oral Diseases
- Publication Type:Journal Article
- Keywords:
ectodysplasin A gene / non-syndromic tooth agenesis / syndromic tooth agenesis / hypodontia / oligodontia / whole exome sequencing / Sanger sequencing / genomic DNA / gene mutation / missense mutation
- From:
Journal of Prevention and Treatment for Stomatological Diseases
2023;31(11):768-773
- CountryChina
- Language:Chinese
-
Abstract:
Objective: To explore the pathogenic genes in a Chinese family affected by nonsyndromic tooth agenesis so as to study the pathogenesis of oligodontia.
Methods : Hospital ethical approval and informed consent of the patients and family members were obtained. Clinical data of the proband and close family members were collected, peripheral venous blood was collected, and DNA was extracted. Gene sequencing was performed through whole-exome sequencing, and then the screened pathogenic genes were verified by Sanger sequencing. The three-dimensional structure of the mutant proteins was analyzed and compared with the wild-type using bioinformatics tools.
Results:The two patients with congenital majority tooth loss in this family were cousins, and there were no other patients with congenital majority tooth loss in the family. Besides congenital multiple tooth loss, the two patients had no obvious hair abnormalities, finger/toe abnormalities, sweating abnormalities or other abnormal manifestations of ectodermal tissue. We found a mutant gene that in this family by carrying out gene sequencing of the patients and their close family members. A novel EDA (ectodysplasin A) missense mutation c.983C>T (p. Pro328Leu) was identified, which changed the encoded amino acid from proline (Pro) to leucine (Leu). Analysis of the mutation site showed that the site was highly conserved, and three-dimensional structure modeling also found that it changed the structure of EDA.
Conclusion:A novel EDA missense variant (c.983C>T, p.Pro328Leu) was first identified in a Chinese family with nonsyndromic tooth agenesis, extending the mutation spectrum of the EDA gene.
- Full text:外胚叶发育不全基因A突变导致家族性非综合征型先天缺牙的初步研究.pdf
