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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Inhabitual autosomal recessive form of dentin dysplasia type I in a large consanguineous Moroccan family
European Journal of Medical Genetics, Volume 56, No. 8, Year 2013
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Description
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 SMOC2 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. © 2013 Elsevier Masson SAS.
Authors & Co-Authors
Cherkaoui, Imane Jaouad
Morocco, Rabat
Faculté de Médecine et de Pharmacie de Rabat
Morocco, Agdal Rabat
Institut National D'hygiène
El Alloussi, Mustapha
Morocco, Rabat
Faculté de Médecine Dentaire de Rabat
Laarabi, Fatima Zahra
Morocco, Rabat
Faculté de Médecine et de Pharmacie de Rabat
Morocco, Agdal Rabat
Institut National D'hygiène
Bouhouche, Ahmed
Morocco, Rabat
Faculté de Médecine et de Pharmacie de Rabat
Ameziane, R.
Morocco, Rabat
Faculté de Médecine Dentaire de Rabat
Sefiani, Abdelaziz
Morocco, Rabat
Faculté de Médecine et de Pharmacie de Rabat
Morocco, Agdal Rabat
Institut National D'hygiène
Statistics
Citations: 16
Authors: 6
Affiliations: 3
Identifiers
Doi:
10.1016/j.ejmg.2013.05.003
ISSN:
17697212
e-ISSN:
18780849
Research Areas
Genetics And Genomics
Participants Gender
Female