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

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/67985904:_____/18:00494324 RIV/00216224:14310/18:00103643 RIV/00159816:_____/18:00068803

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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&gt;T (c.610G&gt;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&gt;T mutation suffered from oligodontia (missing more than 6 teeth excluding third molars). Mutation g.8177G&gt;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&gt;T nonsense mutation affects the amount and function of Msx1 protein and leads to tooth agenesis.

Název v anglickém jazyce

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

Popis výsledku anglicky

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&gt;T (c.610G&gt;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&gt;T mutation suffered from oligodontia (missing more than 6 teeth excluding third molars). Mutation g.8177G&gt;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&gt;T nonsense mutation affects the amount and function of Msx1 protein and leads to tooth agenesis.

Druh

J_SC - Článek v periodiku v databázi SCOPUS

CEP obor

—

OECD FORD obor

30208 - Dentistry, oral surgery and medicine

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2018

Kód důvěrnosti údajů

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

Název periodika

PLoS One

ISSN

1932-6203

e-ISSN

—

Svazek periodika

13

Číslo periodika v rámci svazku

9

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

13

Strana od-do

"nestránkováno"

Kód UT WoS článku

000444093600041

EID výsledku v databázi Scopus

2-s2.0-85053112511