Fig. 1 | Genetics in Medicine

Fig. 1

From: Tuberous sclerosis complex and polycystic kidney disease together: An exception to the contiguous gene syndrome

Fig. 1

Three-generation pedigree of the family indicating individuals affected with autosomal dominant polycystic kidney disease (ADPKD) as a result of a novel missense mutation (R322Q) of the PKD2 gene, as well as those affected with tuberous sclerosis complex (TSC) as a result of a four base-pair deletion (AACA at 2509-2512) of the TSC1 gene. Individual III-5 is the proband (arrow) originally enrolled in our TSC study. Individuals with ? were not available for analyses.

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