Tuberous Sclerosis Complex

Posted 1 year ago by Wales Gene Park

Tuberous sclerosis (TSC) is a rare, genetic condition that causes benign growths to occur in various body organs, particularly the brain, skin, kidney and heart. Other features of tuberous sclerosis include kidney (renal) cysts, seizures and intellectual impairment. Two causative genes have been identified, TSC1 and TSC2. Adjacent to TSC2 on chromosome 16, lies the gene PKD1. This gene is responsible for 85% of Autosomal Dominant Polycystic Kidney Disease, a genetic condition that causes multiple renal cysts to occur, usually in adulthood. Renal cysts are a well recognised feature of tuberous sclerosis. There is a small subgroup of patients with tuberous sclerosis who have a more severe form of renal cystic disease, often with early or congenital onset. A gene deletion involving both TSC2 and PKD1 was described in 1994, known as the TSC2/PKD1 contiguous gene deletion syndrome. Little is known about the natural history of TSC2/PKD1 contiguous gene deletion...

 Tuberous Sclerosis Complex /  Cardiff

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