Mutations in WNT10A are present in more than half of isolated hypodontia cases
| Autor: | Marie-José H. van den Boogaard, Hans Kristian Ploos van Amstel, Yvon Bronkhorst, Dick Lindhout, Marco S. Cune, Eric A. M. Hennekam, Annemieke van der Hout, Marijn Créton |
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| Přispěvatelé: | Personalized Healthcare Technology (PHT) |
| Jazyk: | angličtina |
| Rok vydání: | 2012 |
| Předmět: |
Adult
Male ECTODERMAL DYSPLASIA Ectodermal dysplasia Candidate gene SYMPTOMS Adolescent DNA Mutational Analysis GENETIC-BASIS ONYCHO-DERMAL DYSPLASIA FUNGIFORM PAPILLAE INHERITED ANOMALIES Biology TEETH Axin Protein stomatognathic system OLIGODONTIA Genetics medicine AXIN2 Humans Child Genetics (clinical) Anodontia MSX1 Transcription Factor EDARADD TOOTH AGENESIS Middle Aged medicine.disease Wnt Proteins Hypodontia stomatognathic diseases Phenotype Agenesis Mutation PATTERNS IRF6 Female PAX9 Transcription Factor PAX9 |
| Zdroj: | JOURNAL OF MEDICAL GENETICS, 49(5), 327-331. BMJ PUBLISHING GROUP |
| ISSN: | 1468-6244 0022-2593 |
| Popis: | 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 (similar to 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%. |
| Databáze: | OpenAIRE |
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