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Next generation sequencing reveals a novel nonsense mutation in MSX1 gene related to oligodontia

SYSNO ASEP	0494324
Document Type	J - Journal Article
R&D Document Type	Journal Article
Subsidiary J	Článek ve WOS
Title	Next generation sequencing reveals a novel nonsense mutation in MSX1 gene related to oligodontia
Author(s)	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)_RID
Article number	e0202989
Source Title	PLoS ONE. - : Public Library of Science - ISSN 1932-6203 Roč. 13, č. 9 (2018)
Number of pages	13 s.
Publication form	Online - E
Language	eng - English
Country	US - United States
Keywords	oligodontia ; tooth agenesis
Subject RIV	FF - HEENT, Dentistry
OECD category	Dentistry, oral surgery and medicine
R&D Projects	NT11420 GA MZd - Ministry of Health (MZ)
Institutional support	UZFG-Y - RVO:67985904
UT WOS	000444093600041
EID SCOPUS	85053112511
DOI	10.1371/journal.pone.0202989
Annotation	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.
Workplace	Institute of Animal Physiology and Genetics
Contact	Jana Zásmětová, knihovna@iapg.cas.cz, Tel.: 315 639 554
Year of Publishing	2019

Number of the records: 1