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EN
ČeštinaEnglish

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%2F67985904%3A_____%2F18%3A00494324" target="_blank" >RIV/67985904:_____/18:00494324 - isvavai.cz</a>

  • Alternative codes found

    RIV/00216224:14310/18:00103643 RIV/00159816:_____/18:00068803 RIV/61989592:15110/18:73612047

  • Result on the web

    <a href="http://dx.doi.org/10.1371/journal.pone.0202989" target="_blank" >http://dx.doi.org/10.1371/journal.pone.0202989</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

    —

  • Czech description

    —

Classification

  • Type

    J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database

  • CEP classification

    —

  • OECD FORD branch

    30208 - Dentistry, oral surgery and medicine

Result continuities

  • Project

    <a href="/en/project/NT11420" target="_blank" >NT11420: Molecular diagnostics of hypodontia and possibilities of tooth autotransplantation</a><br>

  • 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

    —

  • 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

    —

  • UT code for WoS article

    000444093600041

  • EID of the result in the Scopus database

    2-s2.0-85053112511

Similar results(10)

Next generation sequencing reveals a novel nonsense mutation in MSX1 gene related to oligodontiaA screen of a large Czech cohort of oligodontia patients implicates a novel mutation in the PAX9 gene.Novel PAX9 gene polymorphisms and mutations and susceptibility to tooth agenesis in the Czech population.