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- Title
MSX1 and PAX9 Investigation in Monozygotic Twins With Variable Expression of Tooth Agenesis.
- Authors
Lopez, Sofia I. N.; Mundstock, Karina S.; Paixão-Côrtes, Vanessa R.; Schüler-Faccini, Lavínia; Mundstock, Carlos A.; Bortolini, Maria Cátira; Salzano, Francisco M.
- Abstract
Non-syndromic agenesis of permanent teeth is one of the most common anomalies in human development, a multifactorial characteristic caused by genetic and environmental factors. We describe a pair of monozygotic twins who showed second premolar and third molar agenesis, albeit with different expressions. We studied the DNA of two genes, paired domain box gene 9 (PAX9) and muscle segment homeodomain-homeobox1 (MSX1), encoding transcription factors that earlier studies found were involved in the manifestation of this condition. No specific causative mutation was found. However, we detected a C→T change in MSX1 exon 2 in both twins, suggesting that this polymorphism might be involved in the trait's expression.
- Subjects
TWIN studies; HUMAN abnormalities; TEETH abnormalities; TRANSCRIPTION factors; ETIOLOGY of diseases; GENE expression; GENETIC polymorphisms
- Publication
Twin Research & Human Genetics, 2013, Vol 16, Issue 6, p1112
- ISSN
1832-4274
- Publication type
Article
- DOI
10.1017/thg.2013.69