Unexpected identification of a recurrent mutation in theDLX3gene causing amelogenesis imperfecta

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To identify the molecular genetic aetiology of a family with autosomal dominant amelogenesis imperfecta (AI).


DNA samples were collected from a six-generation family, and the candidate gene approach was used to screen for the enamelin (ENAM) gene. Whole-exome sequencing and linkage analysis with SNP array data identified linked regions, and candidate gene screening was performed.


Mutational analysis revealed a mutation (c.561_562delCT and p.Tyr188Glnfs*13) in theDLX3gene. After finding a recurrentDLX3mutation, the clinical phenotype of the family members was re-examined. The proband's mother had pulp elongation in the third molars. The proband had not hair phenotype, but her cousin had curly hair at birth.


In this study, we identified a recurrent 2-bp deletionalDLX3mutation in a new family. The clinical phenotype was the mildest one associated with theDLX3mutations. These results will advance the understanding of the functional role of DLX3 in developmental processes.

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