LAUSR

269 epidermal-mesenchymal interaction, which is crucial for tooth morphogenesis [10]. A lack of normal COL17 might have resulted in the dental enamel defects seen in our patient. In summary, the present case expands the mutational database for this rare disease, and linkage analysis confirmed the de novo nature of this splicesite mutation. A rare event such as this warrants special genetic counselling for additional pregnancies and highlights the importance of mutational analysis.