Inhabitual autosomal recessive form of dentin dysplasia type I in a large consanguineous Moroccan family.

[dentin dysplasia]

Dentin dysplasia is a rare autosomal dominant genetic disease characterized by defect of dentin development and the causal gene is DSPP (Dentin Sialophosphoprotein gene ). We report in the present study a large Moroccan family in which dentin dysplasia is clearly transmitted as an autosomal recessive trait . Four males and females family members born from healthy consanguineous parents are carriers of the typical features of the dentin dysplasia type I . Polymorphic markers that span the DSPP gene , allowed us to show that this locus is not linked to dentin dysplasia in our family . We also excluded in our family the SMOC 2 gene (Sparc Related Modular Calcium Binding Protein 2 ) which was recently identified as a causal gene in dentin dysplasia type I with microdontia and misshapen teeth . This family represents , a new description of autosomal recessive pattern of inheritance of dentin dysplasia type I . Moreover , this form of dentin dysplasia is not allelic to the autosomal dominant dentin dysplasia and the genetic cause is to be discovered .