medigraphic.com
ISSN 0001-0944 (Print)
Órgano Oficial de la Asociación Dental Mexicana

2022, Number 6

<< Back Next >>

Rev ADM 2022; 79 (6)

Polymorphic detection of rs104893850 of MSX1 and rs28933373 of PAX9 in people with non syndromic dental agnesia.

Gurrola-González EG, Zambrano-Galván G, Gómez-Palacio-Gastélum M, Barajas-Pérez VH

Language: Spanish
References: 16
Page: 304-311
PDF size: 261.75 Kb.


ABSTRACT

Introduction: non-syndromic dental agenesis (NSDA) generates negative oral health and psychosocial effects in humans. The genetic determinant plays an important role in its development. Objective: to determine the frequency of MSX1 rs104893850 and PAX9 rs28933373 polymorphisms in patients aged 6 to 18 years with NSDA. Material and methods: prolective cross-sectional study, in which individuals aged 6 to 18 years without congenital defects and from the city of Durango were reviewed. After obtaining their consent to be part of the study, the diagnosis of NSDA was established through a clinical dental inspection, a radiographic examination and a capillary blood sample was taken for the genotyping of the polymorphisms through the qPCR-HRM technique. Results: out of a total of 124 individuals, 77 (62%) females and 47 (38%) males; only 39 presented ADNS. In the polymorphic analysis of rs104893850 of MSX1 and rs28933373 of PAX9 we obtained 94.9% and 84.6% respectively of mutated homozygotes. Conclusions: a high frequency of hypodontia was obtained, and the tooth that presented the most agenesis was dental organ 18. Polymorphic mutations are present in a high proportion for dental agenesis.


REFERENCES

  1. Echeverri-Escobar J, Restrepo-Perdomo L, Pineda-Trujillo N, Isaza-Guzman D, Manco-Guzman H, Marin-Botero M. Agenesia dental: Epidemiología, clínica y genética en pacientes antioqueños. Av Odontoestomatol. 2013; 29 (3): 119-130.

  2. Kolenc-Fusé JF. Agenesias dentarias: en busca de las alteraciones genéticas responsables de la falta de desarrollo. Med Oral Patol Oral Cir Bucal. 2004; 9: 385-395.

  3. Al-Ani AH, Antoun JS, Thomson WM, Merriman TR, Farella M. Hypodontia: an update on its etiology, classification, and clinical management. Biomed Res Int. 2017; 2017: 9378325.

  4. Tallón-Walton V, Manzanares-Céspedes MC, Carvalho-Lobato P, Valdivia-Gandur I, Arte S, Nieminen P. Exclusion of PAX9 and MSX1 mutation in six families affected by tooth agenesis. A genetic study and literature review. Med Oral Patol Oral Cir Bucal. 2014; 19 (3): e248-e254.

  5. Díaz-Pérez R, Echaverry-Navarrete RA. Agenesia en dentición permanente. Rev Salud Pública. 2009; 11 (6): 961-969.

  6. Chalothorn LA, Beeman CS, Ebersole JL, Kluemper CT, Hicks EP, Kryscio RJ et al. Hypodontia as a risk marker for epithelial ovarian cancer: A case-controlled study. J Am Dent Assoc. 2008; 139 (2): 163-169. doi: 10.14219/jada.archive.2008.0132.

  7. Ritwik P, Patterson KK. Diagnosis of tooth agenesis in childhood and risk for neoplasms in adulthood. Ochsner J. 2018; 18: 345-350.

  8. Shahid M, Balto H, Al-Hammad N, Joshi S, Saleh-Khalil H, Mohammed-Somily A et al. Mutations in MSX1, PAX9 and MMP20 genes in Saudi Arabian patients with tooth agenesis. Eur J Med Genet. 2016; 59 (8): 377-385. doi: 10.1016/j.ejmg.2016.06.004.

  9. Fournier BP, Bruneau MH, Toupenay S, Kerner S, Berdal A, Cormier-Daire V et al. Patterns of dental agenesis highlight the nature of the causative mutated genes. J Dent Res. 2018; 97 (12): 1306-1316.

  10. Kantaputra PN, Hutsadaloi A, Kaewgahya M, Intachai W, German R, Koparal M et al. WNT10B mutations associated with isolated dental anomalies. Clin Genet. 2013; 93 (5): 992-999.

  11. De Coster PJ, Marks LA, Martens LC, Huysseune A. Dental agenesis: genetic and clinical perspectives. J Oral Pathol Med. 2009; 38 (1): 1-17.

  12. Arboleda L, Echeverri J, Restrepo L, Marin M, Vásquez G, Gómez J et al. Agenesia dental. Revisión bibliográfica y reporte de dos casos clínicos. Rev Fac Odontol Univ Antioquia. 2006; 18 (1): 47-54.

  13. Larmour CJ, Mossey PA, Thind BS, Forgie AH, Stirrups DR. Hypodontia — A retrospective review of prevalence and etiology. Part I. Quintessence Int. 2005; 36 (4): 263-270.

  14. Vastardis H, Karimbux N, Guthua SW, Seidman JG, Seidman CE. A human MSX1 homeodomain missense mutation causes selective tooth agenesis. Nat Genet. 1996; 13: 417-421.

  15. Gutiérrez Prieto S, Mendoza Otero L. Etiología genética del labio y paladar fisurado e hipodoncia ¿entidades que comparten un mismo gen? Univ Odontol. 2006; 25 (57): 34-40.

  16. Liang J, Qin C, Yue H, He H, Bian Z. Archives of oral biology a novel initiation codon mutation of PAX9 in a family with oligodontia. Arch Oral Biol. 2016; 61: 144-148. doi: 10.1016/j.archoralbio.2015.10.022.




2020     |     www.medigraphic.com