F17 NAXOS DISEASE IN AN ARAB FAMILY IS NOT CAUSED BY THE PK2157DEL2 MUTATION; EVIDENCE FOR EXCLUSION OF THE PLAKOGLOBIN GENE
Stuhrmann M1, Bukhari IA2, El-Harith EA1
1Institute of Human Genetics, Medical University Hannover, Hannover, Federal Republic of Germany
2Department of Dermatology, King Fahad Hospital of the University, King Faisal University - Al-Khobar, Kingdom of Saudi Arabia.

Naxos disease is a rare hereditary disorder characterized by palmoplantar keratoderma, woolly hair and cardiomyopathy. This study aims to determine whether Naxos disease in a Saudi Arab family is caused by the Pk2157del2 mutation that was identified in Greek families from Naxos Island where the disease had originally been described. The disease has recently been encountered in a 2-years old girl and her 30-years old aunt of a Saudi Arab family. DNA samples of this family were analysed by PCR amplification of the respective region of the plakoglobin gene, and direct nucleotide sequencing of the PCR-products. Segregation analysis was performed employing the newly detected IVS11+22G/A polymorphism. Results will be discussed during presentation.