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Next generation sequencing reveals a novel nonsense mutation in MSX1 gene related to oligodontia
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SYSNO ASEP 0494324 Druh ASEP J - Článek v odborném periodiku Zařazení RIV J - Článek v odborném periodiku Poddruh J Článek ve WOS Název Next generation sequencing reveals a novel nonsense mutation in MSX1 gene related to oligodontia Tvůrce(i) Bonczek, Ondřej (UZFG-Y)
Bielik, P. (CZ)
Krejčí, P. (CZ)
Zeman, T. (CZ)
Izakovičová-Hollá, L. (CZ)
Šoukalová, J. (CZ)
Vaněk, J. (CZ)
Gerguri, T. (GB)
Balcar, Vladimír Josef (UZFG-Y) ORCID
Šerý, Omar (UZFG-Y) RIDČíslo článku e0202989 Zdroj.dok. PLoS ONE. - : Public Library of Science - ISSN 1932-6203
Roč. 13, č. 9 (2018)Poč.str. 13 s. Forma vydání Online - E Jazyk dok. eng - angličtina Země vyd. US - Spojené státy americké Klíč. slova oligodontia ; tooth agenesis Vědní obor RIV FF - ORL, oftalmologie, stomatologie Obor OECD Dentistry, oral surgery and medicine CEP NT11420 GA MZd - Ministerstvo zdravotnictví Institucionální podpora UZFG-Y - RVO:67985904 UT WOS 000444093600041 EID SCOPUS 85053112511 DOI 10.1371/journal.pone.0202989 Anotace Tooth agenesis is one of the most common craniofacial disorders in humans. More than 350 genes have been associated with teeth development. In this study, we enrolled 60 child patients (age 13 to 17) with various types of tooth agenesis. Whole gene sequences of PAX9, MSX1, AXIN2, EDA, EDAR and WNT10a genes were sequenced by next generation sequencing on the Illumina MiSeq platform. We found previously undescribed heterozygous nonsense mutation g.8177G>T (c.610G>T) in MSX1 gene in one child. Mutation was verified by Sanger sequencing. Sequencing analysis was performed in other family members of the affected child. All family members carrying g.8177G>T mutation suffered from oligodontia (missing more than 6 teeth excluding third molars). Mutation g.8177G>T leads to a stop codon (p.E204X) and premature termination of Msx1 protein translation. Based on previous in vitro experiments on mutation disrupting function of Msx1 homeodomain, we assume that the heterozygous g. 8177G>T nonsense mutation affects the amount and function of Msx1 protein and leads to tooth agenesis. Pracoviště Ústav živočišné fyziologie a genetiky Kontakt Jana Zásmětová, knihovna@iapg.cas.cz, Tel.: 315 639 554 Rok sběru 2019
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