TY - JOUR T1 - Mutations in <em>WNT10A</em> are present in more than half of isolated hypodontia cases JF - Journal of Medical Genetics JO - J Med Genet SP - 327 LP - 331 DO - 10.1136/jmedgenet-2012-100750 VL - 49 IS - 5 AU - Marie-José van den Boogaard AU - Marijn Créton AU - Yvon Bronkhorst AU - Annemieke van der Hout AU - Eric Hennekam AU - Dick Lindhout AU - Marco Cune AU - Hans Kristian Ploos van Amstel Y1 - 2012/05/01 UR - http://jmg.bmj.com/content/49/5/327.abstract N2 - Background Dental agenesis is the most common, often heritable, developmental anomaly in humans. Mutations in MSX1, PAX9, AXIN2 and the ectodermal dysplasia genes EDA, EDAR and EDARADD have been detected in familial severe tooth agenesis. However, until recently, in the majority of cases (∼90%) the genetic factor could not be identified, implying that other genes must be involved. Recent insights into the role of Wnt10A in tooth development, and the finding of hypodontia in carriers of the autosomal recessive disorder, odontooncychodermal dysplasia, due to mutations in WNT10A (OMIM 257980; OODD), make WNT10A an interesting candidate gene for dental agenesis.Methods In a panel of 34 patients with isolated hypodontia, the candidate gene WNT10A and the genes MSX1, PAX9, IRF6 and AXIN2 have been sequenced. The probands all had isolated agenesis of between six and 28 teeth.Results WNT10A mutations were identified in 56% of the cases with non-syndromic hypodontia. MSX1, PAX9 and AXIN2 mutations were present in 3%, 9% and 3% of the cases, respectively.Conclusion The authors identified WNT10A as a major gene in the aetiology of isolated hypodontia. By including WNT10A in the DNA diagnostics of isolated tooth agenesis, the yield of molecular testing in this condition was significantly increased from 15% to 71%. ER -