ArticlePloS one2018
Next generation sequencing reveals a novel nonsense mutation in MSX1 gene related to oligodontia.
Article in PloS one, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 26 citations in OpenAlex.
- A multi-stage computational pipeline for repurposing FDA-approved drugs: application to EGFR C797S-mutant NSCLC.Frontiers in chemistry · 2026Article
- NovelChildren (Basel, Switzerland) · 2024Article
- Identification of novel candidate genes associated with non-syndromic tooth agenesis in Mongolian families.Clinical oral investigations · 2023Article
- MSX1-expression during the different phases in healthy human endometrium.Archives of gynecology and obstetrics · 2023Article
- Family and case-control genetic study of MSX1 polymorphisms in peg-shaped teeth Jordanian population.BMC oral health · 2022Article
- Microbiome of Saliva and Plaque in Children According to Age and Dental Caries Experience.Diagnostics (Basel, Switzerland) · 2021Article
- Novel MSX1 frameshift mutation in a Japanese family with nonsyndromic oligodontia.Human genome variation · 2021Article
- Genetic variants in tooth agenesis-related genes might be also involved in tooth size variations.Clinical oral investigations · 2021Article
- Novel MSX1 variants identified in families with nonsyndromic oligodontia.International journal of oral science · 2021Article
- MSX1-A Potential Marker for Uterus-Preserving Therapy of Endometrial Carcinomas.International journal of molecular sciences · 2020Article
- Gene-Environment Interactions in Major Mental Disorders in the Czech Republic.Neuropsychiatric disease and treatment · 2020Article
- Study of rs12532, rs8670 Polymorphism of Msh Homeobox 1 (MSX1), rs61754301, rs4904155 Polymorphism of Paired Box Gene 9 (PAX9), and rs2240308 Polymorphism of Axis Inhibitor Protein 2 (AXIN2) Genes in Nonsyndromic Hypodontia.BioMed research international · 2019Article
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Authors and funding
10 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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