Dentistry and Molecular Biology: A Promising Field for Tooth Agenesis Management

Junior, Breno Ramos Boeira; Echeverrigaray, Sérgio

doi:10.1620/tjem.226.243

Cited by 14 publications

(1 citation statement)

References 35 publications

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“…Therefore, a given mutation within this region or even around it may dramatically reduce the DNA-binding ability of the paired domain, causing the arrest of the developing tooth bud. Figure adapted from Boeira Junior, Echeverrigaray (25).…”

Section: Selection Of Nuclear Families and Pedigree Constructionmentioning

confidence: 99%

Novel missense mutation in PAX9 gene associated with familial tooth agenesis

Junior

Echeverrigaray

2012

J Oral Pathology Medicine

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PAX9 is a transcription factor deeply involved in the gene networks that regulate odontogenesis. To date, only a restricted number of mutations in this gene have been associated with non-syndromic tooth agenesis. Six families segregating non-syndromic oligodontia/hypodontia were screened for mutations in PAX9 gene. A novel missense mutation lying in the exon 2 close to the end of the paired domain in three families was identified. Heterozygous mutation C503G is expected to result in an alanine-to-glycine amino acid change in residue 168 (Ala168Gly), which is invariably conserved among several species. The alanine-glycine change might lead to protein structural alteration because of the unique flexibility properties of glycine. Three mutations in intron 2 were also detected. Variations IVS2-109G>C, IVS2-54A>G, and IVS2-41A>G were identified in both affected and unaffected members of the sample; however, these polymorphic variants may be involved in the phenotype as one proband showing all three intronic mutations in homozygosis was affected with the most severe oligodontia within the sample.

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Section: Selection Of Nuclear Families and Pedigree Constructionmentioning

confidence: 99%

Novel missense mutation in PAX9 gene associated with familial tooth agenesis

Junior

Echeverrigaray

2012

J Oral Pathology Medicine

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Missing teeth and pediatric obstructive sleep apnea

Guilleminault¹,

Abad²,

Chiu³

et al. 2015

Sleep Breath

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Alveolar bone growth is dependent on the presence of the teeth that it supports. The dental agenesis in the studied children was not part of a syndrome and was an isolated finding. Our children with permanent teeth missing due to congenital agenesis or permanent teeth extraction had a smaller oral cavity, known to predispose to the collapse of the upper airway during sleep, and presented with OSA recognized at a later age. Due to the low-grade initial symptomatology, sleep-disordered breathing may be left untreated for a prolonged period with progressive worsening of symptoms over time.

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