Investigation of pulsed field deletions at the chromosome 16 TSC2 locus

Tuberous sclerosis loci map at 9q34 near to the Abelson oncogene, and at 16p13.3 in the candidate region for type 1 adult polycystic kidney disease (PKD1). Five TSC-associated pulsed field deletions were found in the gene-rich PKD1 candidate region at 16p13.3, leading to the cloning and characterization of the TSC2 gene. One deletion detected in a TSC patient with polycystic kidneys (WS-53) also involved a gene proximal and adjacent to the TSC2 gene. This gene has now been shown to be the causative gene in type 1 adult polycystic kidney disease. Polycystic reneal disease is well recognized in association with TSC. We are therefore investigating other TSC patients with this complication to determine whether mutations affecting both the TSC2 and PKD1 genes account for this phenotypic variant of TSC.