Genetic study of non‐syndromic tooth agenesis through the screening of paired box 9, msh homeobox 1, axin 2, and Wnt family member 10A genes: a case‐series |
| |
Authors: | Marwa Haddaji Mastouri Peter De Coster Aicha Zaghabani Frej Jammali Nabiha Raouahi Amina Ben Salem Ali Saad Paul Coucke Dorra H'mida Ben Brahim |
| |
Institution: | 1. Department of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia;2. Department of Restorative Dentistry, Endodontology and Oral Biology, Ghent University Hospital, Ghent University, Ghent, Belgium;3. Private Practice, Sousse, Tunisia;4. Department of Orthodontics, Farhat Hached University Hospital, Sousse, Tunisia;5. Private Practice, Hamam lif, Tunisia;6. Center for Medical Genetics, Ghent University Hospital, Ghent University, Ghent, Belgium |
| |
Abstract: | Non‐syndromic tooth agenesis (NSTA) is the most common developmental anomaly in humans. Several studies have been conducted on dental agenesis and numerous genes have been identified. However, the pathogenic mechanisms responsible for NSTA are not clearly understood. We studied a group of 28 patients with sporadic NSTA and nine patients with a family history of tooth agenesis. We focused on four genes – paired box 9 (PAX9), Wnt family member 10A (WNT10A), msh homeobox 1 (MSX1), and axin 2 (AXIN2) – using direct Sanger sequencing of the exons and intron–exon boundaries. The most prevalent variants identified in PAX9 and AXIN2 genes were analyzed using the chi‐square test. The sequencing results revealed a number of variants in the AXIN2 gene, including one novel missense mutation in one patient with agenesis of a single second premolar. We also identified one variant in the AXIN2 gene as being a putative risk factor for tooth agenesis. Only one missense mutation was identified in the WNT10A gene and this mutation was found in two patients. Interestingly, WNT10A is reported as the most prevalent gene mutated in the European population with NSTA. |
| |
Keywords: | AXIN2 gene hypodontia novel mutation oligodontia polymorphism |
|
|