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Mutation analysis by direct and whole exome sequencing in familial and sporadic tooth agenesis

  • Authors:
    • Alessandro Salvi
    • Edoardo Giacopuzzi
    • Elena Bardellini
    • Francesca Amadori
    • Lia Ferrari
    • Giuseppina De Petro
    • Giuseppe Borsani
    • Alessandra Majorana
  • View Affiliations / Copyright

    Affiliations: Department of Molecular and Translational Medicine, Division of Biology and Genetics, University of Brescia, I-25123 Brescia, Italy, Department of Medical and Surgical Specialties, Radiological Sciences and Public Health, Dental Clinic, University of Brescia, I-25123 Brescia, Italy
    Copyright: © Salvi et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 1338-1348
    |
    Published online on: September 19, 2016
       https://doi.org/10.3892/ijmm.2016.2742
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Abstract

Dental agenesis is one of the most common congenital craniofacial abnormalities. Dental agenesis can be classified, relative to the number of missing teeth (excluding third molars), as hypodontia (1 to 5 missing teeth), oligodontia (6 or more missing teeth), or anodontia (lack of all teeth). Tooth agenesis may occur either in association with genetic syndromes, based on the presence of other inherited abnormalities, or as a non-syndromic trait, with both familiar and sporadic cases reported. In this study, we enrolled 16 individuals affected by tooth agenesis, prevalently hypodontia, and we carried out direct Sanger sequencing of paired box 9 (PAX9) and Msh homeobox 1 (MSX1) genes in 9 subjects. Since no mutations were identified, we performed whole exome sequencing (WES) in the members of 5 families to identify causative gene mutations either novel or previously described. Three individuals carried a known homozygous disease mutation in the Wnt family member 10A (WNT10A) gene (rs121908120). Interestingly, two of these individuals were siblings and also carried a heterozygous functional variant in EDAR-associated death domain (EDARADD) (rs114632254), another disease causing gene, generating a combination of genetic variants never described until now. The analysis of exome sequencing data in the members of other 3 families highlighted new candidate genes potentially involved in tooth agenesis and considered suitable for future studies. Overall, our study confirmed the major role played by WNT10A in tooth agenesis and the genetic heterogeneity of this disease. Moreover, as more genes are shown to be involved in tooth agenesis, WES analysis may be an effective approach to search for genetic variants in familiar or sporadic tooth agenesis, at least in more severe clinical manifestations.
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Copy and paste a formatted citation
Spandidos Publications style
Salvi A, Giacopuzzi E, Bardellini E, Amadori F, Ferrari L, De Petro G, Borsani G and Majorana A: Mutation analysis by direct and whole exome sequencing in familial and sporadic tooth agenesis. Int J Mol Med 38: 1338-1348, 2016.
APA
Salvi, A., Giacopuzzi, E., Bardellini, E., Amadori, F., Ferrari, L., De Petro, G. ... Majorana, A. (2016). Mutation analysis by direct and whole exome sequencing in familial and sporadic tooth agenesis. International Journal of Molecular Medicine, 38, 1338-1348. https://doi.org/10.3892/ijmm.2016.2742
MLA
Salvi, A., Giacopuzzi, E., Bardellini, E., Amadori, F., Ferrari, L., De Petro, G., Borsani, G., Majorana, A."Mutation analysis by direct and whole exome sequencing in familial and sporadic tooth agenesis". International Journal of Molecular Medicine 38.5 (2016): 1338-1348.
Chicago
Salvi, A., Giacopuzzi, E., Bardellini, E., Amadori, F., Ferrari, L., De Petro, G., Borsani, G., Majorana, A."Mutation analysis by direct and whole exome sequencing in familial and sporadic tooth agenesis". International Journal of Molecular Medicine 38, no. 5 (2016): 1338-1348. https://doi.org/10.3892/ijmm.2016.2742
Copy and paste a formatted citation
x
Spandidos Publications style
Salvi A, Giacopuzzi E, Bardellini E, Amadori F, Ferrari L, De Petro G, Borsani G and Majorana A: Mutation analysis by direct and whole exome sequencing in familial and sporadic tooth agenesis. Int J Mol Med 38: 1338-1348, 2016.
APA
Salvi, A., Giacopuzzi, E., Bardellini, E., Amadori, F., Ferrari, L., De Petro, G. ... Majorana, A. (2016). Mutation analysis by direct and whole exome sequencing in familial and sporadic tooth agenesis. International Journal of Molecular Medicine, 38, 1338-1348. https://doi.org/10.3892/ijmm.2016.2742
MLA
Salvi, A., Giacopuzzi, E., Bardellini, E., Amadori, F., Ferrari, L., De Petro, G., Borsani, G., Majorana, A."Mutation analysis by direct and whole exome sequencing in familial and sporadic tooth agenesis". International Journal of Molecular Medicine 38.5 (2016): 1338-1348.
Chicago
Salvi, A., Giacopuzzi, E., Bardellini, E., Amadori, F., Ferrari, L., De Petro, G., Borsani, G., Majorana, A."Mutation analysis by direct and whole exome sequencing in familial and sporadic tooth agenesis". International Journal of Molecular Medicine 38, no. 5 (2016): 1338-1348. https://doi.org/10.3892/ijmm.2016.2742
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