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Major genes which cause tuberous sclerosis (TSC) and autosomal dominant polycystic kidney disease (ADPKD), known as TSC2 and PKD1 respectively, lie immediately adjacent to each other on chromosome 16p. Renal cysts are often found in TSC, but a specific renal phenotype, distinguished by the severity and infantile presentation of the cystic changes, is seen in a small proportion of cases. We have identified large deletions disrupting TSC2 and PKD1 in each of six such cases studied. Analysis of the deletions indicates that they inactivate PKD1, in contrast to the mutations reported in ADPKD patients, where in each case abnormal transcripts have been detected.

Original publication




Journal article


Nat Genet

Publication Date





328 - 332


Adolescent, Adult, Aged, Base Sequence, Child, Child, Preschool, Chromosomes, Human, Pair 16, DNA Primers, Electrophoresis, Gel, Pulsed-Field, Gene Deletion, Humans, Infant, Middle Aged, Molecular Sequence Data, Polycystic Kidney, Autosomal Dominant, Proteins, Repressor Proteins, TRPP Cation Channels, Tuberous Sclerosis Complex 2 Protein, Tumor Suppressor Proteins