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

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/67985904:_____/15:00443239 RIV/00216224:14310/15:00080625 RIV/00159816:_____/15:00062884

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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

Název v anglickém jazyce

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

Popis výsledku anglicky

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

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FF - ORL, oftalmologie, stomatologie

OECD FORD obor

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Projekt

Výsledek vznikl pri realizaci vícero projektů. Více informací v záložce Projekty.

Návaznosti

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Rok uplatnění

2015

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

European journal of oral sciences

ISSN

0909-8836

e-ISSN

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Svazek periodika

123

Číslo periodika v rámci svazku

2

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

7

Strana od-do

65-71

Kód UT WoS článku

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EID výsledku v databázi Scopus

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