Mutations in WNT10A are present in more than half of isolated hypodontia cases

Journal of Medical Genetics
Marie-José van den BoogaardHans Kristian Ploos van Amstel

Abstract

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. 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. 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. 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...Continue Reading

Citations

Apr 4, 2013·European Archives of Paediatric Dentistry : Official Journal of the European Academy of Paediatric Dentistry·A R VieiraA Modesto
May 7, 2014·Archives of Oral Biology·Ebtesam M AbdallaSuzan R Ismail
Dec 21, 2013·Seminars in Cell & Developmental Biology·Yu LanRulang Jiang
Jan 9, 2014·European Journal of Human Genetics : EJHG·Christian P VinkCarine E L Carels
Jun 15, 2014·Seminars in Immunology·Sylvie Lefebvre, Marja L Mikkola
Dec 10, 2013·Medicina oral, patología oral y cirugía bucal·Victoria Tallón-WaltonPekka Nieminen
Apr 23, 2015·American Journal of Medical Genetics. Part a·Sarah L DuganJohn B Vincent
Aug 22, 2015·Journal of Applied Genetics·Wieslaw H Trzeciak, Ryszard Koczorowski
Jan 13, 2016·Journal of Orofacial Orthopedics = Fortschritte Der Kieferorthopädie : Organ/official Journal Deutsche Gesellschaft Für Kieferorthopädie·Gisela Ruiz-HeilandSabine Ruf
Nov 17, 2015·Archives of Oral Biology·Jia LiangZhuan Bian
Oct 27, 2015·Sleep Medicine Reviews·Christian Guilleminault, Farah Akhtar
Oct 15, 2013·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Ophir D KleinRenata Peterkova
Sep 14, 2013·European Journal of Oral Sciences·Adrianna MostowskaPaweł P Jagodziński
Feb 13, 2013·American Journal of Medical Genetics. Part a·Julie PlaisanciéNicolas Chassaing
Jul 12, 2013·European Journal of Oral Sciences·Yanyu HuangRena D'Souza
Dec 30, 2014·European Journal of Oral Sciences·Adrianna MostowskaPaweł P Jagodziński
Jan 25, 2014·American Journal of Medical Genetics. Part a·P KantaputraW Kantaputra
Jan 23, 2014·American Journal of Medical Genetics. Part a·Pakeeza Shaiq ArzooNiklas Dahl
Apr 5, 2014·American Journal of Medical Genetics. Part a·Gabriele MuesRena N D'Souza
Apr 11, 2014·American Journal of Medical Genetics. Part a·Birgitta Bergendal
Apr 10, 2014·American Journal of Medical Genetics. Part a·Peter H Itin
Dec 7, 2013·American Journal of Medical Genetics. Part a·P KantaputraW Kantaputra
Oct 16, 2015·Clinical Oral Investigations·Brunilda DhamoEdwin M Ongkosuwito
Apr 8, 2016·Archives of Oral Biology·Agnieszka GaczkowskaAdrianna Mostowska
Jan 30, 2015·Molecular Genetics & Genomic Medicine·Jie YangJan C-C Hu
Mar 4, 2014·Archives of Oral Biology·Singwai WongHailan Feng
Jun 19, 2015·Indian Journal of Dermatology, Venereology and Leprology·Alejandro Vilas-SueiroCristina De las Heras
Dec 20, 2013·Journal of Oral Science·Leonardo S AntunesJose M Granjeiro
Apr 20, 2016·European Journal of Oral Sciences·Haitang YueZhuan Bian
Jan 24, 2015·Human Molecular Genetics·Ryosuke KimuraTetsutaro Yamaguchi
Jul 2, 2016·European Journal of Medical Genetics·Mohammad ShahidVarinderpal S Dhillon
Nov 6, 2013·Case Reports in Dentistry·Siddarth Gupta, Hashmat Popat

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