Dental Abnormalities in Schimke Immuno-osseous Dysplasia

M. Morimoto, O. Kérourédan, M. Gendronneau, C. Shuen, A. Baradaran-Heravi, Y. Asakura, M. Basiratnia, R. Bogdanović, D. Bonneau, A. Buck, J. Charrow, P. Cochat, K. A. Dehaai, M. S. Fenkçi, P. Frange, S. Fründ, H. Fryssira, K. Keller, S. Kirmani, C. KobelkaK. Kohler, D. B. Lewis, L. Massella, D. R. Mcleod, D. V. Milford, F. Nobili, A. H. Olney, C. N. Semerci, N. Stajić, A. Stein, S. Taque, J. Zonana, T. Lücke, G. Hendson, M. Bonnaure-Mallet, C. F. Boerkoel

Research output: Contribution to journalArticle

16 Scopus citations

Abstract

Described for the first time in 1971, Schimke immuno-osseous dysplasia (SIOD) is an autosomal-recessive multisystem disorder that is caused by bi-allelic mutations of SMARCAL1, which encodes a DNA annealing helicase. To define better the dental anomalies of SIOD, we reviewed the records from SIOD patients with identified bi-allelic SMARCAL1 mutations, and we found that 66.0% had microdontia, hypodontia, or malformed deciduous and permanent molars. Immunohistochemical analyses showed expression of SMARCAL1 in all developing teeth, raising the possibility that the malformations are cell-autonomous consequences of SMARCAL1 deficiency. We also found that stimulation of cultured skin fibroblasts from SIOD patients with the tooth morphogens WNT3A, BMP4, and TGFβ1 identified altered transcriptional responses, raising the hypothesis that the dental malformations arise in part from altered responses to developmental morphogens. To the best of our knowledge, this is the first systematic study of the dental anomalies associated with SIOD.

Original languageEnglish (US)
Pages (from-to)S29-S37
JournalJournal of Dental Research
Volume91
DOIs
StatePublished - Jul 2012

Keywords

  • SMARCAL1
  • cell signaling
  • hypodontia
  • microdontia
  • molar root hypoplasia
  • tooth morphogenesis

ASJC Scopus subject areas

  • Dentistry(all)

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    Morimoto, M., Kérourédan, O., Gendronneau, M., Shuen, C., Baradaran-Heravi, A., Asakura, Y., Basiratnia, M., Bogdanović, R., Bonneau, D., Buck, A., Charrow, J., Cochat, P., Dehaai, K. A., Fenkçi, M. S., Frange, P., Fründ, S., Fryssira, H., Keller, K., Kirmani, S., ... Boerkoel, C. F. (2012). Dental Abnormalities in Schimke Immuno-osseous Dysplasia. Journal of Dental Research, 91, S29-S37. https://doi.org/10.1177/0022034512450299