A search in the ESTs databases succeeded in detecting 84ESTsin the region 14q23-14q24. Only 4 ESTs resulted to map within the critical region. Two of them resulted to correspond to cardiac transcript. The full-length cDNA of the two cardiac transcripts was obtained and sequenced. The analysis of the DNA sequence revealed that one EST corresponds to a processed pseudogene, while the other one corresponds to a novel gene.
Work is now in progress on the two additional ESTs previously localized in the critical region.
At the same time, the the mutation screening on the patient's cDNA of the first candidate gene is on the way. In conclusion, in the last years, linkage studies performed on ARVD families provided evidence that the disease is mostly genetically determined and succeeded in identifying four different loci. In the present phase of the study the systematic collection of clinical information and of DNA specimens in ARVD families is still of paramount importance, both for identifying new ARVD loci and refining the genetic localization of known loci. Moreover, the collection of a large number of ARVD families and their genetic characterization would allow the establishment of relative frequency of each ARVD type and the prevalence in the population. Unexpected sudden cardiac death.