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Running Time: 24 min

Language: English


Non-syndromic tooth agenesis or isolated hypodontia is the most common human malformation. The prevalence of the condition ranges from 1.6% to 9.6% in different populations. Non-syndromic tooth agenesis has been reported to be associated with heterozygous mutations in MSX1, PAX9, WNT10A and WNT10B. MSX1 and PAX9 are the most reported genes associated with agenesis of the premolars and/or molars. Oligodontia patients with PAX9 mutation exhibit clear phenotype with agenesis in molar region, on the other hand, the patients with mutations in MSX1 gene show various phenotypes including agenesis of the premolars.
Previous functional analyses for detected mutations have been examined with cell culture system because of the methodological limitation. It means that the causality of the reported mutations detected in small pedigrees or unclear phenotypes is not always reliable. Recently, more than half of patients with hypodontia were reported to have WNT10A mutation without any functional analysis of the gene, however, the causality is statistically questionable. For such a reason, the genotype/phenotype correlation is occasionally in a state of chaos.
The presentation will show the mutation detection of the genes for the patient with oligodontia using next-generation sequencing technology-based targeted panel sequencing analysis which improves the molecular diagnosis in target genes. The presentation will also make clear the causality of pathogenic SNVs using genome editing technology in mice. This strategy showing tooth phenotype can be a useful method to verify genotype/phenotype correlation of human disorders. For Msx1 gene, in vivo functional analysis for each conserved domain will also be presented.

Release Date: 8-12-2020


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