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Premolar hypodontia is a common feature in Sotos syndrome with a mutation in the NSD1 gene

Authors

  • Johanna Kotilainen,

    Corresponding author
    1. Department of Orthodontics, Institute of Dentistry, University of Helsinki, Helsinki, Finland
    • Department of Orthodontics, Institute of Dentistry, University of Helsinki, P.O. Box 41, 00014 Helsinki, Finland.
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  • Pia Pohjola,

    1. Department of Medical Biochemistry and Genetics, University of Turku, Turku, Finland
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  • Sinikka Pirinen,

    1. Department of Orthodontics, Institute of Dentistry, University of Helsinki, Helsinki, Finland
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  • Sirpa Arte,

    1. Department of Orthodontics, Institute of Dentistry, University of Helsinki, Helsinki, Finland
    2. Department of Oral and Maxillofacial Diseases, Helsinki University Central Hospital, Helsinki, Finland
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  • Pekka Nieminen

    1. Department of Orthodontics, Institute of Dentistry, University of Helsinki, Helsinki, Finland
    2. Department of Oral and Maxillofacial Diseases, Helsinki University Central Hospital, Helsinki, Finland
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  • Johanna Kotilainen and Pia Pohjola contributed equally to this work.

  • How to cite this article: Kotilainen J, Pohjola P, Pirinen S, Arte S, Nieminen P. 2009. Premolar hypodontia is a common feature in Sotos syndrome with a mutation in the NSD1 gene. Am J Med Genet Part A 149A:2409–2414.

Abstract

The major diagnostic manifestations in Sotos syndrome include frontal bossing, downward slanting palpebral fissures, a prominent jaw, learning disability, and childhood overgrowth. Over 90% of clinically diagnosed patients have an abnormality in the NSD1 gene. We investigated the dental manifestations of this disorder and found one or several premolar teeth were absent in 9 out of 13 (69%) affected children and adolescents. A heterozygous mutation in the NSD1 gene was identified in 12 patients, including all patients with hypodontia. The severity of the hypodontia seemed to increase with the severity of aberration of the NSD1. More than 50% of the patients had enamel defects or excessive tooth wear. Dental age, based on tooth formation, was within the normal range. A characteristic occlusion for Sotos syndrome could not be identified. As agenesis of premolars was a common feature in these patients affected with Sotos syndrome, we recommend panoramic radiography at the age of 7 years. If premolars are missing, proper preventive and restorative care is necessary to maintain the deciduous molars. © 2009 Wiley-Liss, Inc.

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