A novel c.581C>T transition localized in a highly conserved homeobox sequence of MSX1: is it responsible for oligodontia?

• Authors: A. Mostowska , B. Biedziak , W.H. Trzeciak
• Languages of publication: EN

Abstracts

EN

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 of MSX1, PAX9, AXIN2 and TGF, whose protein products play a crucial role in odontogenesis. In the present report we described a novel mutation of MSX1, 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 of MSX1, was identified also in 2 healthy individuals from the proband's family. Our finding suggests that this transition might be the first described mutation of MSX1 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.

Keywords

EN

MUTATION; OLIGODONTIA

Discipline

• GENETICS: GENETICS

• Publisher: Institute of Plant Genetics, Polish Academy of Sciences
• Journal: Journal of Applied Genetics
• Year: 2006
• Volume: 47
• Issue: 2
• Pages: 159-164

Contributors

author

A. Mostowska

author

B. Biedziak

author

W.H. Trzeciak

• Document Type: ARTICLE
• Publication order reference: A. Mostowska, Department of Biochemistry and Molecular Biology, University of Medical Sciences, Swiecickiego 6, 60?781 Poznan, Poland