A tuberous sclerosis patient with a large TSC2 and PKD1 gene deletion shows extrarenal signs of autosomal dominant polycystic kidney disease

Contributions to Nephrology

Volumn 122, Issue , 1997, Pages 91-95

  Longa, L ^a   Brusco, A ^a   Carbonara, C ^a   Polidoro, S ^a   Scolari, F ^b   Valzorio, B ^b   Riegler, P ^c   Tardanico, R ^d   Migone, N ^a,e  

^a UNIVERSITY OF TURIN   (Italy)

^b Divisione di Nefrologia   (Italy)

^c OSPEDALE CA FONCELLO   (Italy)

^d Servizio di Anatomia Patologica   (Italy)

^e Dipartimento di Genetica Biologia e Chimica Medica   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

POLYCYSTIC KIDNEY DISEASE 1 PROTEIN; POLYCYSTIN; PROTEIN; REPRESSOR PROTEIN; TUBERIN; TUMOR SUPPRESSOR PROTEIN;

ADULT; ANGIOMYOLIPOMA; ARTICLE; CASE REPORT; CHROMOSOME 16; CHRONIC KIDNEY FAILURE; GENE DELETION; GENETIC MARKER; GENETICS; HETEROZYGOSITY LOSS; HUMAN; KIDNEY POLYCYSTIC DISEASE; MALE; MUTATION; TUBEROUS SCLEROSIS;

ADULT; ANGIOMYOLIPOMA; CHROMOSOMES, HUMAN, PAIR 16; GENETIC MARKERS; HUMANS; KIDNEY FAILURE, CHRONIC; LOSS OF HETEROZYGOSITY; MALE; MUTATION; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT; PROTEINS; REPRESSOR PROTEINS; SEQUENCE DELETION; TRPP CATION CHANNELS; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR PROTEINS;

EID: 0031297239     PISSN: 03025144     EISSN: None     Source Type: Book Series    
DOI: None     Document Type: Article

References (20)

1. Khan AG, Melman A, Bank N: Renal involvement in neurocutaneous syndromes. J Am Soc Nephrol 1995;5:1411-1417.
2. Cook JA, Oliver K, Mueller RF, Sampson J: A cross sectional study of renal involvement in tuberous sclerosis. J Med Genet 1996;33:480-484.
3. Webb DW, Kabala J, Osborne JP: A population study of renal disease in patients with tuberous sclerosis. Br J Urol 1994;74:151-154.
4. Schillinger F, Montagnac R: Chronic renal failure and its treatment in tuberous sclerosis. Nephrol Dial Transplant 1996;11:481-485.
5. Neumann HPH, Brüggen V, Berger DP, et al.: Tuberous sclerosis complex with end-stage renal failure. Nephrol Dial Transplant 1995;10:349-353.
6. Manno C, Claudatus J, La Raia E, Savino L, Schena FP, Rita S: Chronic renal failure for bilateral spontaneous kidney rupture in a case of tuberous sclerosis. Am J Nephrol 1991;11:416-421.
7. Kalra OP, Verma PP, Kochlar S, Jha V, Sakhuja V: Bilateral renal angiomyolipomatosis in tuberous sclerosis presenting with chronic renal failure: Case report and review of the literature. Nephron 1994;68:256-258.
8. Brook-Carter PT, Peral B, Ward CJ, et al: Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease - A contiguous gene syndrome. Nat Genet 1994;8:328-332.
9. Sampson J, Maheshwar M, Aspiwall R, et al: PKD1 gene involvement in renal cystic disease in patients with tuberous sclerosis. J Am Soc Nephrol 1996;7:1621(abstr 1863).
10. Harris PC, Ward CJ, Peral B, Hughes J: Autosomal dominant polycystic kidney disease: Molecular analysis. Hum Mol Genet 1995;4:1745-1749.
11. Bottaro A, Cariota U, DeMarchi M, Carbonara AO: Pulsed-field electrophoresis screening for immunoglobulin heavy-chain constant-region multigene deletions and duplications. Am J Hum Genet 1991;48:745-756.
12. Hughes J, Ward J, Peral B, et al: The polycystic kidney disease 1 gene encodes a novel protein with multiple cell recognition domains. Nat Genet 1995;10:151-160.
13. Burn TC, Connors TD, Dackowski WR, et al: Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucine-rich repeat. The American PKD1 Consortium (APKD1 Consortium). Hum Mol Genet 1995;4:575-582.
14. Northrup H, Wheeless JW, Bertin TK, Lewis RA: Variability of expression in tuberous sclerosis. J Med Genet 1993;30:41-43.
15. Fick GM, Johnson AM, Strain JD, et al: Characteristics of very early onset autosomal dominant polycystic kidney disease. J Am Soc Nephrol 1993;3:1863-1870.
16. Zerres K, Rudnik-Schöneborn S, Deger F: German working group on paediatric nephrology. Child-hood onset autosomal dominant polycystic kidney disease in sibs: Clinical picture and recurrence risk. J Med Genet 1993;30:583-588.
17. Carbonara C, Longa L, Grosso E, et al: Apparent preferential loss of heterozygosity at TSC2 over TSC1 chromosomal region in tuberous sclerosis hamartomas. Gene Chromos Cancer 1996;15: 18-25.
18. Green AJ, Smith M, Yates JRW: Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients. Nat Genet 1994;6:193-196.
19. Qian F, Watnick TJ, Onuchic LF, Germino GG: The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type 1. Cell 1996;87:979-987.
20. Gabow PA, Johnson AM, Kaehny WD, et al: Factors affecting the progression of renal disease in autosomal dominant polycystic kidney disease. Kidney Int 1992;41:1311-1319.