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Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes

Authors

  • Birgitta Bergendal,

    1. National Oral Disability Centre, The Institute for Postgraduate Dental Education, Jönköping, Sweden
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  • Joakim Klar,

    1. Department of Immunology, Genetics and Pathology, Science for Life Laboratory and Rudbeck Laboratory, Uppsala University, Uppsala, Sweden
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  • Christina Stecksén-Blicks,

    1. Department of Odontology, Paediatric Dentistry, Faculty of Medicine, Umeå University, Umeå, Sweden
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  • Johanna Norderyd,

    1. National Oral Disability Centre, The Institute for Postgraduate Dental Education, Jönköping, Sweden
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  • Niklas Dahl

    Corresponding author
    1. Department of Immunology, Genetics and Pathology, Science for Life Laboratory and Rudbeck Laboratory, Uppsala University, Uppsala, Sweden
    • Department of Immunology, Genetics and Pathology, Science for Life Laboratory and Rudbeck Laboratory, Uppsala University, 751 85 Uppsala, Sweden.
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  • How to Cite this Article: Bergendal B, Klar J, Stecksén-Blicks C, Norderyd J, Dahl N. 2011. Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes. Am J Med Genet Part A 155:1616–1622.

Abstract

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. © 2011 Wiley-Liss, Inc.

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