Abstract
Even though selective tooth agenesis is the most common developmental anomaly of human dentition, its genetic background still remains poorly understood. To date, familial as well as sporadic forms of both hypodontia and oligodontia have been associated with mutations or polymorphisms ofMSX1, PAX9, AXIN2 andTGFα, whose protein products play a crucial role in odontogenesis. In the present report we described a novel mutation ofMSX1, which might be responsible for the lack of 14 permanent teeth in our proband. However, this c.581C>T transition, localized in a highly conserved homeobox sequence ofMSX1, was identified also in 2 healthy individuals from the proband’s family. Our finding suggests that this transition might be the first described mutation ofMSX1 that might be responsible for oligodontia and showing incomplete penetrance. It may also support the view that this common anomaly of human dentition might be an oligogenic trait caused by simultaneous mutations of different genes.
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Mostowska, A., Biedziak, B. & Trzeciak, W.H. A novel c.581C>T transition localized in a highly conserved homeobox sequence ofMSX1: is it responsible for oligodontia?. J Appl Genet 47, 159–164 (2006). https://doi.org/10.1007/BF03194616
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DOI: https://doi.org/10.1007/BF03194616