Tooth agenesis

Definition:

Tooth agenesis, or hypodontia/oligodontia, refers to the congenital absence of a few teeth without any systemic disorders. Tooth development is a complex process that involves interactions between the oral epithelium and underlying mesenchyme. Perturbation of this process results in tooth agenesis. This disease could be inherited as either an autosomal dominant, autosomal recessive, or X-linked trait.

References:

[1]. Abdul Noor, et al. Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3. Am J Hum Genet. 2009 Apr;84(4):519-23. [Content Brief]

[2]. D W Stockton, et al. Mutation of PAX9 is associated with oligodontia. Nat Genet. 2000 Jan;24(1):18-9. [Content Brief]

[3]. H Vastardis, et al. A human MSX1 homeodomain missense mutation causes selective tooth agenesis. Nat Genet. 1996 Aug;13(4):417-21. [Content Brief]

[4]. Maarten P G Massink, et al. Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia. Am J Hum Genet. 2015 Oct 1;97(4):621-6. [Content Brief]

[5]. Miao Yu, et al. Genetic analysis: Wnt and other pathways in nonsyndromic tooth agenesis. Oral Dis. 2019 Apr;25(3):646-651. [Content Brief]

[6]. P N Kantaputra, et al. GREMLIN 2 Mutations and Dental Anomalies. J Dent Res. 2015 Dec;94(12):1646-52. [Content Brief]

[7]. Pakeeza Shaiq Arzoo, et al. WNT10A mutations account for ¼ of population-based isolated oligodontia and show phenotypic correlations. Am J Med Genet A. 2014 Feb;164A(2):353-9. [Content Brief]

[8]. Ping Yu, et al. Mutations in WNT10B Are Identified in Individuals with Oligodontia. Am J Hum Genet. 2016 Jul 7;99(1):195-201. [Content Brief]

[9]. Ran Tao, et al. A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia. J Hum Genet. 2006;51(5):498-502. [Content Brief]

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