A screen of a large Czech cohort of oligodontia patients implicates a novel mutation in the PAX9 gene |
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Authors: | Omar Šerý Ondřej Bonczek Alena Hloušková Pavlína Černochová Jiří Vaněk Ivan Míšek Přemysl Krejčí Lydie Izakovičová Hollá |
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Affiliation: | 1. Laboratory of DNA Diagnostics, Department of Biochemistry, Faculty of Science, Masaryk University, Brno, Czech Republic;2. Laboratory of Animal Embryology, Institute of Animal Physiology and Genetics, The Academy of Sciences of the Czech Republic, Brno, Czech Republic;3. Clinic of Stomatology, Faculty of Medicine, Masaryk University and St. Anne's University Hospital, Brno, Czech Republic;4. Faculty of Medicine and Dentistry, Institute of Dentistry and Oral Sciences, Palacky University, Olomouc, Czech Republic |
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Abstract: | Tooth agenesis is one of the most common developmental anomalies in humans. To date, many mutations involving paired box 9 (PAX9), msh homeobox 1 (MSX1), and axin 2 (AXIN2) genes have been identified. The aim of the present study was to perform screening for mutations and/or polymorphisms using the capillary sequencing method in the critical regions of PAX9 and MSX1 genes in a group of 270 individuals with tooth agenesis and in 30 healthy subjects of Czech origin. This screening revealed a previously unknown heterozygous g.9527G>T mutation in the PAX9 gene in monozygotic twins with oligodontia and three additional affected family members. The same variant was not found in healthy relatives. This mutation is located in intron 2, in the region recognized as the splice site between exon 2 and intron 2. We hypothesize that the error in pre‐mRNA splicing may lead to lower expression of PAX9 protein and could have contributed to the development of tooth agenesis in the affected subjects. |
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Keywords: | monozygotic twins mutation screening oligodontia
PAX9
tooth agenesis |
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