Objective: Mutations within the p63 gene have been shown to cause ectodermal dysplasia syndromes affecting a spectrum of developmental abnormalities, including ectodermal appendages, e.g. enamel. The affected teeth have a similar phenotype as another dental disorder, amelogenesis imperfecta (AI), a disease of genetically determined abnormal enamel formation in the absence of systemic symptoms. The genetic basis of particular forms of AI has been found, although the gene(s) responsible for the most prevalent AI types has not been identified.
Material and methods: DNA samples of 41 individuals (25 affected and 16 unaffected) from 6 Swedish families with autosomal-dominant AI were screened for mutations (by partially denaturing HPLC) and sequenced.
Results: No mutation in p63 was found in these families.
Conclusions: p63 is not responsible for different forms of autosomal-dominant AI in the Swedish families studied. The roles of p63 in tooth development and in the genetic etiology of AI remain to be identified.