Next generation sequencing reveals a novel nonsense mutation in MSX1 gene related to oligodontia
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61989592%3A15110%2F18%3A73612047" target="_blank" >RIV/61989592:15110/18:73612047 - isvavai.cz</a>
Alternative codes found
RIV/67985904:_____/18:00494324 RIV/00216224:14310/18:00103643 RIV/00159816:_____/18:00068803
Result on the web
<a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128526/pdf/pone.0202989.pdf" target="_blank" >https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128526/pdf/pone.0202989.pdf</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1371/journal.pone.0202989" target="_blank" >10.1371/journal.pone.0202989</a>
Alternative languages
Result language
angličtina
Original language name
Next generation sequencing reveals a novel nonsense mutation in MSX1 gene related to oligodontia
Original language description
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.
Czech name
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Czech description
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Classification
Type
J<sub>SC</sub> - Article in a specialist periodical, which is included in the SCOPUS database
CEP classification
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OECD FORD branch
30208 - Dentistry, oral surgery and medicine
Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2018
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
PLoS One
ISSN
1932-6203
e-ISSN
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Volume of the periodical
13
Issue of the periodical within the volume
9
Country of publishing house
US - UNITED STATES
Number of pages
13
Pages from-to
"nestránkováno"
UT code for WoS article
000444093600041
EID of the result in the Scopus database
2-s2.0-85053112511