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%.
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%.
Authors: Nicholas A Ellis; Andrew M Glazer; Nikunj N Donde; Phillip A Cleves; Rachel M Agoglia; Craig T Miller Journal: Development Date: 2015-06-10 Impact factor: 6.868
Authors: John Timothy Wright; Mary Fete; Holm Schneider; Madelaine Zinser; Maranke I Koster; Angus J Clarke; Smail Hadj-Rabia; Gianluca Tadini; Nina Pagnan; Atila F Visinoni; Birgitta Bergendal; Becky Abbott; Timothy Fete; Clark Stanford; Clayton Butcher; Rena N D'Souza; Virginia P Sybert; Maria I Morasso Journal: Am J Med Genet A Date: 2019-01-31 Impact factor: 2.802
Authors: Bryan T MacDonald; Annie Hien; Xinjun Zhang; Oladoyin Iranloye; David M Virshup; Marian L Waterman; Xi He Journal: J Biol Chem Date: 2014-05-19 Impact factor: 5.157
Authors: S-W Wong; D Han; H Zhang; Y Liu; X Zhang; M Z Miao; Y Wang; N Zhao; L Zeng; B Bai; Y-X Wang; H Liu; S A Frazier-Bowers; H Feng Journal: J Dent Res Date: 2017-09-14 Impact factor: 6.116
Authors: Maarten P G Massink; Marijn A Créton; Francesca Spanevello; Willem M M Fennis; Marco S Cune; Sanne M C Savelberg; Isaäc J Nijman; Madelon M Maurice; Marie-José H van den Boogaard; Gijs van Haaften Journal: Am J Hum Genet Date: 2015-09-17 Impact factor: 11.025