Preliminary study of familial nonsyndromic tooth agenesis caused by ectodysplasin A mutation
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...
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| Format: | Article |
| Language: | zho |
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Editorial Department of Journal of Prevention and Treatment for Stomatological Diseases
2023-11-01
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| Series: | 口腔疾病防治 |
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| Online Access: | https://www.kqjbfz.com/CN/10.12016/j.issn.2096-1456.2023.11.002 |
| _version_ | 1797690191830319104 |
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| author | WANG Huihui WU Qing XU Bin LING Qi WU Yiqun |
| author_facet | WANG Huihui WU Qing XU Bin LING Qi WU Yiqun |
| author_sort | WANG Huihui |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-12T01:57:04Z |
| format | Article |
| id | doaj.art-44f82fe1e772488ba51dc79262c575e4 |
| institution | Directory Open Access Journal |
| issn | 2096-1456 |
| language | zho |
| last_indexed | 2024-03-12T01:57:04Z |
| publishDate | 2023-11-01 |
| publisher | Editorial Department of Journal of Prevention and Treatment for Stomatological Diseases |
| record_format | Article |
| series | 口腔疾病防治 |
| spelling | doaj.art-44f82fe1e772488ba51dc79262c575e42023-09-08T03:07:43ZzhoEditorial Department of Journal of Prevention and Treatment for Stomatological Diseases口腔疾病防治2096-14562023-11-01311176877310.12016/j.issn.2096-1456.2023.11.002Preliminary study of familial nonsyndromic tooth agenesis caused by ectodysplasin A mutationWANG Huihui0WU Qing 1 XU Bin2LING Qi 3 WU Yiqun 4Department of Stomatology, Shanghai Fifth People's Hospital, Fudan UniversityDepartment of Stomatology, Shanghai Fifth People's Hospital, Fudan UniversityDepartment of Stomatology, Shanghai Fifth People's Hospital, Fudan UniversityShanghai Fengxian Stomatological hospitalDepartment of Second Dental Center Shanghai Ninth People'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 DiseasesObjective 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.https://www.kqjbfz.com/CN/10.12016/j.issn.2096-1456.2023.11.002ectodysplasin a genenon-syndromic tooth agenesissyndromic tooth agenesishypodontiaoligodontiawhole exome sequencingsanger sequencinggenomic dnagene mutationmissense mutation |
| spellingShingle | WANG Huihui WU Qing XU Bin LING Qi WU Yiqun Preliminary study of familial nonsyndromic tooth agenesis caused by ectodysplasin A mutation 口腔疾病防治 ectodysplasin a gene non-syndromic tooth agenesis syndromic tooth agenesis hypodontia oligodontia whole exome sequencing sanger sequencing genomic dna gene mutation missense mutation |
| title | Preliminary study of familial nonsyndromic tooth agenesis caused by ectodysplasin A mutation |
| title_full | Preliminary study of familial nonsyndromic tooth agenesis caused by ectodysplasin A mutation |
| title_fullStr | Preliminary study of familial nonsyndromic tooth agenesis caused by ectodysplasin A mutation |
| title_full_unstemmed | Preliminary study of familial nonsyndromic tooth agenesis caused by ectodysplasin A mutation |
| title_short | Preliminary study of familial nonsyndromic tooth agenesis caused by ectodysplasin A mutation |
| title_sort | preliminary study of familial nonsyndromic tooth agenesis caused by ectodysplasin a mutation |
| topic | ectodysplasin a gene non-syndromic tooth agenesis syndromic tooth agenesis hypodontia oligodontia whole exome sequencing sanger sequencing genomic dna gene mutation missense mutation |
| url | https://www.kqjbfz.com/CN/10.12016/j.issn.2096-1456.2023.11.002 |
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