Two cases of TSC2/PKD1 contiguous gene deletion syndrome

Abstract

JGM [2]. Sporadic cases constitute two thirds of tuberous sclerosis cases. TSC2 mutations are about four times more frequent in sporadic cases compared to TSC1 mutations and cause a more severe phenotype [3]. Autosomal dominant polycystic kidney disease (ADPKD, MIM#173900) is a common renal disorder, occurring in approximately 1 in every 1,000 live births [4]. It is characterized by progressive bilateral renal cysts leading to renal failure in the fifth to seventh decade of life. Occasionally, liver cysts and intracranial aneurysm may occur. Mutations in PKD1 on 16p13.3, encoding polycystin 1, or PKD2 on 4q22, encoding

The Evolving Role of Diagnostic Genomics in Kidney Transplantation

“…It has the advantage of speed and high throughput compared with conventional methods, including higher sensitivity, as compared with exome- or genome-based structural variant analysis. This method is particularly helpful in the situation of PKD1-TSC2 contiguous gene deletion syndrome, 45 , 46 especially as mosaicism is sometimes present in this condition. 46 …”