PUBLICATION
Homozygosity Mapping and Candidate Prioritization Identify Mutations, Missed by Whole-Exome Sequencing, in SMOC2, Causing Major Dental Developmental Defects
- Authors
- Bloch-Zupan, A., Jamet, X., Etard, C., Laugel, V., Muller, J., Geoffroy, V., Strauss, J.P., Pelletier, V., Marion, V., Poch, O., Strahle, U., Stoetzel, C., and Dollfus, H.
- ID
- ZDB-PUB-120105-12
- Date
- 2011
- Source
- American journal of human genetics 89(6): 773-781 (Journal)
- Registered Authors
- Etard, Christelle, Strähle, Uwe
- Keywords
- none
- MeSH Terms
-
- Homozygote*
- Consanguinity
- Dentin Dysplasia/diagnosis
- Dentin Dysplasia/genetics*
- Genetic Association Studies
- Tooth/growth & development*
- Chromosome Mapping*
- Zebrafish/genetics
- Zebrafish/growth & development
- Child
- Humans
- Molecular Sequence Data
- Mice
- Chromosomes, Human, Pair 6
- Sequence Analysis, DNA*
- Animals
- Gene Expression
- Calcium-Binding Proteins/genetics*
- Carrier Proteins/genetics
- Child, Preschool
- Neoplasm Proteins/genetics
- Pedigree
- Exome*
- Gene Expression Regulation, Developmental
- Female
- PubMed
- 22152679 Full text @ Am. J. Hum. Genet.
Citation
Bloch-Zupan, A., Jamet, X., Etard, C., Laugel, V., Muller, J., Geoffroy, V., Strauss, J.P., Pelletier, V., Marion, V., Poch, O., Strahle, U., Stoetzel, C., and Dollfus, H. (2011) Homozygosity Mapping and Candidate Prioritization Identify Mutations, Missed by Whole-Exome Sequencing, in SMOC2, Causing Major Dental Developmental Defects. American journal of human genetics. 89(6):773-781.
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.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping