References
- European Chromosome 16 Tuberous Sclerosis Consortium. Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 1993;75:1305-15. https://doi.org/10.1016/0092-8674(93)90618-Z
- Osborne JP, Fryer A, Webb D. Epidemiology of tuberous sclerosis. Ann N Y Acad Sci 1991;615:125-7.
- Dabora SL, Jozwiak S, Franz DN, Roberts PS, Nieto A, Chung J, et al. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am J Hum Genet 2001;68:64-80. https://doi.org/10.1086/316951
- Gabow PA. Autosomal dominant polycystic kidney disease. N Engl J Med 1993;329:332-42. https://doi.org/10.1056/NEJM199307293290508
- Fick GM, Gabow PA. Hereditary and acquired cystic disease of the kidney. Kidney Int 1994;46:951-64. https://doi.org/10.1038/ki.1994.354
- Brook-Carter PT, Peral B, Ward CJ, Thompson P, Hughes J, Maheshwar MM, et al. Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome. Nat Genet 1994;8:328-32. https://doi.org/10.1038/ng1294-328
- Paul E, Thiele EA, Shailam R, Rosales AM, Sadow PM. Case records of the Massachusetts general hospital. Case 26-2011. A 7-year-old boy with a complex cyst in the kidney. N Engl J Med 2011;365:743-51. https://doi.org/10.1056/NEJMcpc1103557
- Back SJ, Andronikou S, Kilborn T, Kaplan BS, Darge K. Imaging features of tuberous sclerosis complex with autosomal-dominant polycystic kidney disease: a contiguous gene syndrome. Pediatr Radiol 2015;45:386-95. https://doi.org/10.1007/s00247-014-3147-1
- Cabrera-Lopez C, Bullich G, Marti T, Catala V, Ballarin J, Bissler JJ, et al. Insight into response to mTOR inhibition when PKD1 and TSC2 are mutated. BMC Med Genet 2015;16:39.
- Longa L, Scolari F, Brusco A, Carbonara C, Polidoro S, Valzorio B, et al. A large TSC2 and PKD1 gene deletion is associated with renal and extrarenal signs of autosomal dominant polycystic kidney disease. Nephrol Dial Transplant 1997;12:1900-7. https://doi.org/10.1093/ndt/12.9.1900
- Oyazato Y, Iijima K, Emi M, Sekine T, Kamei K, Takanashi J, et al. Molecular analysis of TSC2/PKD1 contiguous gene deletion syndrome. Kobe J Med Sci 2011;57:E1-10.
- Llamas Velasco S, Camacho Salas A, Vidales Moreno C, Ceballos Rodriguez RM, Murcia Garcia FJ, Simon de la Heras R. TSC2/PKD1 contiguous gene deletion syndrome. An Pediatr (Barc) 2013;79:42-5. https://doi.org/10.1016/j.anpedi.2012.12.004
- Kacerovska D, Vrtel R, Michal M, Vanecek T, Vodicka R, Kreuzberg B, et al. TSC2/PKD1 contiguous gene syndrome: a report of 2 cases with emphasis on dermatopathologic findings. Am J Dermatopathol 2009;31:532-41. https://doi.org/10.1097/DAD.0b013e3181970e44
- Ismail NF, Nik Abdul Malik NM, Mohseni J, Rani AM, Hayati F, Salmi AR, et al. Two novel gross deletions of TSC2 in Malaysian patients with tuberous sclerosis complex and TSC2/PKD1 contiguous deletion syndrome. Jpn J Clin Oncol 2014;44:506-11. https://doi.org/10.1093/jjco/hyu024
- Sampson JR, Maheshwar MM, Aspinwall R, Thompson P, Cheadle JP, Ravine D, et al. Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene. Am J Hum Genet 1997;61:843-51. https://doi.org/10.1086/514888
- Hajj P, Ferlicot S, Massoud W, Awad A, Hammoudi Y, Charpentier B, et al. Prevalence of renal cell carcinoma in patients with autosomal dominant polycystic kidney disease and chronic renal failure. Urology 2009;74:631-4. https://doi.org/10.1016/j.urology.2009.02.078
- Bonnet CS, Aldred M, von Ruhland C, Harris R, Sandford R, Cheadle JP. Defects in cell polarity underlie TSC and ADPKD-associated cystogenesis. Hum Mol Genet 2009;18:2166-76. https://doi.org/10.1093/hmg/ddp149
- Walz G, Budde K, Mannaa M, Nurnberger J, Wanner C, Sommerer C, et al. Everolimus in patients with autosomal dominant polycystic kidney disease. N Engl J Med 2010;363:830-40. https://doi.org/10.1056/NEJMoa1003491
- Bisceglia M, Galliani C, Carosi I, Simeone A, Ben-Dor D. Tuberous sclerosis complex with polycystic kidney disease of the adult type: the TSC2/ADPKD1 contiguous gene syndrome. Int J Surg Pathol 2008;16:375-85. https://doi.org/10.1177/1066896908319578