title: [TSC2/PKD1 contiguous gene deletion syndrome].
abstract: The TSC2 gene responsible for Tuberous Sclerosis, is located in chromosome 16p 13.3, adjacent to the gene for autosomal dominant polycystic kidney disease. A large deletion can involve both genes, causing the so-called TSC2/PKD1 contiguous gene syndrome (MIM#600273). It is characterized by congenital renal cysts, or their early onset in patients with tuberous sclerosis, and implies a worst prognosis in renal disease. We report the case of a five year-old boy with tuberous sclerosis, who presented with multiple large bilateral renal cysts in the neonatal period. A genetic confirmation study was later performed using the multiple ligation probe amplification (MLPA) technique.
authors: Servicio de Neurología, Hospital 12 de Octubre, Madrid, España. laisset@hotmail.com
authors: S
authors: S
authors: Llamas Velasco
authors: A
authors: A
authors: Camacho Salas
authors: C
authors: C
authors: Vidales Moreno
authors: R M
authors: RM
authors: Ceballos Rodríguez
authors: F J
authors: FJ
authors: Murcia García
authors: R
authors: R
authors: Simón de la Heras
mesh_terms: D002648:Child; D017353:Gene Deletion; D006801:Humans; D008297:Male; D017044:Polycystic Kidney, Autosomal Recessive / Q000235:genetics*; D013577:Syndrome; D050396:TRPP Cation Channels / Q000235:genetics*; D014402:Tuberous Sclerosis / Q000235:genetics*; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D050396:TRPP Cation Channels; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins; C000624653:TSC2 protein, human