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Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects.

ABSTRACT: 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.

SUBMITTER: Bloch-Zupan A 

PROVIDER: S-EPMC3234372 | biostudies-literature | 2011 Dec

REPOSITORIES: biostudies-literature

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Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects.

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]

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