Article
Atypical noncontiguous TSC2/PKD1 gene deletions presenting as tuberous sclerosis/polycystic kidney disease contiguous gene syndrome.
American journal of medical genetics. Part A - 1 Dec 2024
Ventayol-Guirado Marc, Torres Laura, Asensio-Landa Victor, Pérez-Granero Ángeles, Madrid Maria Isabel, Hernandez-Rodriguez Jessica, Llull-Alberti Maria Victoria, Lumbreras Javier, Escribà Silvia, Pons Monserrat, Roldan Jordi, Martínez-López Iciar, Heine-Suñer Damian, Santos-Simarro Fernando
Abstract excerpt
Tuberous sclerosis complex (TSC) and autosomal dominant polycystic kidney disease (ADPKD) are genetically distinct disorders typically associated with pathogenic variants in TSC1 and TSC2 for the former and PKD1 and PKD2 for the latter. TSC2 and PKD1 lie adjacent to each other, and large deletions comprising both genes lead to TSC2/PKD1 contiguous gene deletion syndrome (CGS). In this study, we describe a young...
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