Ontology highlight
ABSTRACT:
SUBMITTER: Bloch-Zupan A
PROVIDER: S-EPMC3234372 | biostudies-literature | 2011 Dec
REPOSITORIES: biostudies-literature
Bloch-Zupan Agnès A Jamet Xavier X Etard Christelle C Laugel Virginie V Muller Jean J Geoffroy Véronique V Strauss Jean-Pierre JP Pelletier Valérie V Marion Vincent V Poch Olivier O Strahle Uwe U Stoetzel Corinne C Dollfus Hélène H
American journal of human genetics 20111201 6
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 ha ...[more]