A screen of a large Czech cohort of oligodontia patients implicates a novel mutation in the PAX9 gene.

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61989592%3A15110%2F15%3A33157682" target="_blank" >RIV/61989592:15110/15:33157682 - isvavai.cz</a>
Alternative codes found
RIV/67985904:_____/15:00443239 RIV/00216224:14310/15:00080625 RIV/00159816:_____/15:00062884
Result on the web
<a href="http://onlinelibrary.wiley.com/doi/10.1111/eos.12170/full" target="_blank" >http://onlinelibrary.wiley.com/doi/10.1111/eos.12170/full</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1111/eos.12170" target="_blank" >10.1111/eos.12170</a>

Result language
angličtina
Original language name
A screen of a large Czech cohort of oligodontia patients implicates a novel mutation in the PAX9 gene.
Original language description
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 performscreening 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 subj
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FF - ENT (ie. ear, nose, throat), ophthalmology, dentistry
OECD FORD branch
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Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Publication year
2015
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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