Number of the records: 1
A screen of a large Czech cohort of oligodontia patients implicates a novel mutation in the PAX9 gene
- 1.
SYSNO ASEP 0443239 Document Type J - Journal Article R&D Document Type Journal Article Subsidiary J Článek ve WOS Title A screen of a large Czech cohort of oligodontia patients implicates a novel mutation in the PAX9 gene Author(s) Šerý, Omar (UZFG-Y) RID
Bonczek, Ondřej (UZFG-Y)
Hloušková, A. (CZ)
Černochová, P. (CZ)
Vaněk, J. (CZ)
Míšek, Ivan (UZFG-Y)
Krejčí, J. (CZ)
Izakovičová Hollá, L. (CZ)Source Title European Journal of Oral Sciences. - : Wiley - ISSN 0909-8836
Roč. 123, č. 2 (2015), s. 65-71Number of pages 7 s. Publication form Print - P Language eng - English Country DK - Denmark Keywords monozygotic twins ; mutation screening ; oligodontia Subject RIV FF - HEENT, Dentistry R&D Projects GB14-37368G GA ČR - Czech Science Foundation (CSF) NT11420 GA MZd - Ministry of Health (MZ) Institutional support UZFG-Y - RVO:67985904 UT WOS 000351166700002 EID SCOPUS 84924797948 DOI 10.1111/eos.12170 Annotation 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. Workplace Institute of Animal Physiology and Genetics Contact Jana Zásmětová, knihovna@iapg.cas.cz, Tel.: 315 639 554 Year of Publishing 2016
Number of the records: 1