WNT10A coding variants and maxillary lateral incisor agenesis with associated dental anomalies

• DOI: 10.1111/eos.12165
• Publication Date: 2014-12-29T13:49:13Z
• Authors: Adrianna Mostowska; Barbara Biedziak; Małgorzata Zadurska; Sylwia Matuszewsk...; Paweł P. Jagodziński
• Keywords: Coding region; Agenesis; Hypodontia; Etiology

Congenital maxillary lateral incisor agenesis ( MLIA ) is one of the most common subtypes dental agenesis. Because little known with regard to aetiology this anomaly, aim study was determine contribution nucleotide variants in wingless‐type MMTV integration site family, member 10A WNT ), msh homeobox 1 MSX and paired box 9 PAX risk a Polish population. Coding regions selected genes were analysed by direct sequencing group 20 individuals unilateral bilateral , associated or not other anomalies. The frequencies identified assessed an additional cohort patients isolated n = 147) 178 controls. Mutation screening showed four non‐synonymous substitutions located highly conserved coding sequence five (25%) patients. Analysis genotyping results revealed that three these – p.Arg113Cys, p.Phe228Ile, newly p.Arg171Leu may represent aetiological mutations underlying No potentially aetiologic . In conclusion, first report implicating gene These will require further confirmation using larger‐scale studies.