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Isolated Oligodontia Associated With Mutations in EDARADD, AXIN2, MSX1, and PAX9 Genes
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medical Genetics. Uppsala University, Science for Life Laboratory, SciLifeLab.
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2011 (English)In: American Journal of Medical Genetics Part A, ISSN 1552-4825, Vol. 155, no 7, 1616-1622 p.Article in journal (Refereed) Published
Abstract [en]

Oligodontia is defined as the congenital lack of six or more permanent teeth, excluding third molars. Oligodontia as well as hypodontia (lack of one or more permanent teeth) are highly heritable conditions associated with mutations in the AXIN2, MSX1, PAX9, EDA, and EDAR genes. Here we define the prevalence of mutations in the AXIN2, MSX1, PAX9, EDA, and EDAR genes, and the novel candidate gene EDARADD in a cohort of 93 Swedish probands with non-syndromic, isolated oligodontia. Mutation screening was performed using denaturing gradient gel electrophoresis and DNA sequence analysis. Analyses of the coding sequences of the six genes showed sequence alterations predicted to be damaging or potentially damaging in ten of 93 probands (10.8%). Mutations were identified in the EDARADD (n = 1), AXIN2 (n = 3), MSX1 (n = 2), and PAX9 (n = 4) genes, respectively. None of the 10 probands with mutations had other self-reported symptoms from ectodermal tissues. The oral parameters were similar when comparing individuals with and without mutations but a family history of oligodontia was three times more frequent for probands with mutations. EDARADD mutations have previously been reported in a few families segregating hypohidrotic ectodermal dysplasia and this is, to our knowledge, the first report of an EDARADD mutation associated with isolated oligodontia.

Place, publisher, year, edition, pages
2011. Vol. 155, no 7, 1616-1622 p.
Keyword [en]
isolated oligodontia, ectodermal dysplasia, mutation screening, EDARADD
National Category
Medical and Health Sciences
URN: urn:nbn:se:uu:diva-156161DOI: 10.1002/ajmg.a.34045ISI: 000291944700019OAI: oai:DiVA.org:uu-156161DiVA: diva2:430861
Available from: 2011-07-13 Created: 2011-07-12 Last updated: 2012-06-12Bibliographically approved

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