ArticleGenetics and molecular research : GMR2013
Mutational analysis of AXIN2, MSX1, and PAX9 in two Mexican oligodontia families.
Article in Genetics and molecular research : GMR, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 21 citations in OpenAlex.
- AXIN2 variants, tooth agenesis, and cancer risk: a systematic review.BMC oral health · 2025Pooled it
- Trial
- NovelChildren (Basel, Switzerland) · 2024Article
- The oligodontia phenotype in a X-linked hypohidrotic ectodermal dysplasia patient with a novelHeliyon · 2024Article
- Novel MSX1 variants identified in families with nonsyndromic oligodontia.International journal of oral science · 2021Article
- WNT10A variants in relation to nonsyndromic hypodontia in eastern Slovak population.Journal of genetics · 2018Article
- Next generation sequencing reveals a novel nonsense mutation in MSX1 gene related to oligodontia.PloS one · 2018Article
- Genetic Variants of BMP2 and Their Association with the Risk of Non-Syndromic Tooth Agenesis.PloS one · 2016Article
- A Nonsyndromic Autosomal Dominant Oligodontia with A Novel Mutation of PAX9-A Clinical and Genetic Report.Journal of clinical and diagnostic research : JCDR · 2015Article
- Clinical and genetic analysis of a nonsyndromic oligodontia in a child.Case reports in dentistry · 2014Article
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
The genes for axin inhibition protein 2 (AXIN2), msh homeobox 1 (MSX1), and paired box gene 9 (PAX9) are involved in tooth root formation and tooth development. Mutations of the AXIN2, MSX1, and PAX9 genes are associated with non-syndromic oligodontia. In this study, we investigated phenotype and AXIN2, MSX1, and PAX9 gene variations in two Mexican families with non-syndromic oligodontia. Individuals from two families underwent clinical examinations, including an intra-oral examination and panoramic radiograph. Retrospective data were reviewed, and peripheral blood samples were collected. The exons and exon-intronic boundaries of the AXIN2, MSX1, and PAX9 genes were sequenced and analyzed. Protein and messenger RNA structures were predicted using bioinformative software programs. Clinical and oral examinations revealed isolated non-syndromic oligodontia in the two Mexican families. The average number of missing teeth was 12. The sequence analysis of exons and exon-intronic regions of AXIN2, MSX1, and PAX9 revealed 11 single-nucleotide polymorphisms (SNPs), including seven in AXIN2, two in MSX1, and three in PAX9. One novel SNP of MSX1, c.476T>G (Leu159Arg), was found in all of the studied patients in the families. MSX1 Leu159Arg and PAX9 Ala240Pro change protein and messenger RNA structures. Our findings suggested that a combined reduction of MSX1 and PAX9 gene dosages increased the risk for oligodontia in the Mexican families, as in vivo investigation has indicated that interaction between Msx1 and Pax9 is required for tooth development.
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Registered trials
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