Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 89, Issue 6, Pages 773-781Publisher
CELL PRESS
DOI: 10.1016/j.ajhg.2011.11.002
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Funding
- Hopitaux Universitaires de Strasbourg
- French Ministry of Health
- European Integrating Project Zebrafish Regulomics for Human Health (ZF-Health)
- European network on Fish Biomedical Models (EuFishBioMed)
- European Cooperation in Science and Technology [COST] Action [BM0804]
- Helmholtz Association
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Inherited dental malformations constitute a clinically and genetically heterogeneous group of disorders. Here, we report on a severe developmental dental defect that results in a dentin dysplasia phenotype with major microdontia, oligodontia, and shape abnormalities in a highly consanguineous family. Homozygosity mapping revealed a unique zone on 6q27-ter. The two affected children were found to carry a homozygous mutation in SMOC2. Knockdown of smoc2 in zebrafish showed pharyngeal teeth that had abnormalities reminiscent of the human phenotype. Moreover, smoc2 depletion in zebrafish affected the expression of three major odontogenesis genes: dlx2, bmp2, and pitx2.
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