Mother-to-child transmitted WT1 splice-site mutation is responsible for distinct glomerular diseases

Journal of the American Society of Nephrology

Volumn 10, Issue 10, 1999, Pages 2219-2223

  Denamur, Erick ^b   Bocquet, Nathalie ^c   Mougenot, Beatrice ^c   Da Silva, Francis ^c   Martinat, Laurence ^a   Loirat, Chantal ^c   Elion, Jacques ^c   Bensman, Albert ^a   Ronco, Pierre M ^c  

^a ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^b HÔPITAL ROBERT DEBRÉ   (France)

^c NONE

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CLINICAL FEATURE; EXTRACHROMOSOMAL INHERITANCE; FEMALE; GENE MUTATION; GENETIC LINKAGE; GLOMERULOSCLEROSIS; HUMAN; KIDNEY FAILURE; NEPHROBLASTOMA; NEPHROTIC SYNDROME; PRIORITY JOURNAL; PSEUDOHERMAPHRODITISM; SCHOOL CHILD; SYNDROME; TUMOR SUPPRESSOR GENE;

EID: 0032824381     PISSN: 10466673     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (26)

1. Glassock RJ, Cohen AH, Adler S: Focal glomerular sclerosis. In: The Kidney, edited by Brenner BM, Philadelphia, Saunders, 1996, pp 1446-1452
2. Savin VJ, Sharma R, Sharma M, McCarthy ET, Swan SK, Ellis E, Lovell H, Warady B, Gunwar S, Chonko AM, Artero M, Vincenti F: Circulating factor associated with increased glomerular permeability to albumin in recurrent focal segmental glomerulosclerosis. N Engl J Med 334: 878-883, 1996
3. Conlon PJ, Butterly D, Albers F, Gunnels JC, Howell DN: Clinical and pathologic features of familial focal segmental glomerulosclerosis. Am J Kidney Dis 26: 34-40, 1995
4. Faubert PF, Porush JG: Familial focal segmental glomerulosclerosis: Nine cases in four families and review of the literature. Am J Kidney Dis 30: 265-270, 1997
5. Goodman DJ, Clarke B, Hope RN, Miach PJ, Dawborn JK: Familial focal glomerulosclerosis: A genetic linkage to the HLA locus? Am J Nephrol 15: 442-445, 1995
6. Tejani A, Nicastri A, Phadke K, Sen D, Adamson O, Dunn I, Calderon P: Familial focal segmental glomerulosclerosis. Int J Pediatr Nephrol 4: 231-234, 1983
7. D'Agati V: The many masks of focal segmental glomerulosclerosis. Kidney Int 46: 1223-1241, 1994
8. Mathis BJ, Kim SH, Calabrese K, Haas M, Seidman JG, Seidman CE, Pollak MR: A locus for inherited focal segmental glomerulosclerosis maps to chromosome 19q13. Kidney Int 53: 282-286, 1998
9. Frasier S, Bashore RA, Mosier HD: Gonadoblastoma associated with pure gonadal dysgenesis in monozygotic twins. J Pediatr 64: 740-745, 1964
10. Haning RV, Chesney RW, Moorthy AV, Gilbert EF: A syndrome of chronic renal failure and XY gonadal dysgenesis in young phenotypic females without genital ambiguity. Am J Kidney Dis 6: 40-48, 1985
11. Moorthy AV, Chesney RW, Lubinsky M: Chronic renal failure and XY gonadal dysgenesis: "Frasier" syndrome - A commentary on reported cases. Am J Med Genet 3: 297-302, 1987
12. Barbaux S, Niaudet P, Gubler MC, Grünfeld JP, Jaubert F, Kuttenn F, Nihoul Fékété C, Souleyreau-Therville N, Thibaud E, Fellous M, McElreavey K: Donor splice-site mutations in WT1 are responsible for Frasier syndrome. Nat Genet 17: 467-470, 1997
13. Kikuchi H, Takata A, Akasaka Y, Fukuzawa R, Yoneyama H, Kurosawa Y, Honda M, Kamiyama Y, Hata J: Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome? J Med Genet 35: 45-48, 1998
14. Klamt B, Koziell A, Poulat F, Wieacker P, Scambler P, Berta P, Gessler M: Frasier syndrome is caused by detective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms. Hum Mol Genet 4: 709-714, 1998
15. Haber DA, Sohn RL, Buckler AJ, Pelletier J, Call KM, Housman DE: Alternative splicing and genomic structure of the Wilms' tumor gene WT1. Proc Natl Acad Sci USA 88: 9618-9622, 1991
16. Larsson SH, Charlieu JP, Miyagawa K, Engelkamp D, Rassou-Izadegan M, Ross A, Cuzin F, van Heyningen V, Hastie ND: Subnuclear localization of WT1 in splicing or transcription factor domains is regulated by alternative splicing. Cell 81: 391-401, 1995
17. Habib R, Gubler MC, Antignac C, Gagnadoux MF: Diffuse mesangial sclerosis: A congenital glomerulopathy with nephrotic syndrome. In: Advances in Nephrology, Vol. 22, St. Louis, Mosby Year Book, Inc., 1993, pp 43-57
18. Little M, Wells C: A clinical overview of WT1 gene mutations. Hum Mutat 9: 209-225, 1997
19. Patek CE, Little MH, Fleming S, Miles C, Charlieu JP, Clarke AR, Miyagawa K, Christie S, Doig J, Harrison DJ, Porteous DJ, Brookes AJ, Hooper ML, Hastie ND: A zinc finger truncation of murine WT1 results in the characteristic urogenital abnormalities of Denys-Drash syndrome. Proc Natl Acad Sci USA 96: 2931-2936, 1999
20. Jeanpierre C, Denamur E, Henry I, Cabanis MO, Luce S, Cécille A, Elion J, Peuchmaur M, Loirat C, Niaudet P, Gubler MC, Junien C: Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotye correlations by use of a computerized mutation database. Am J Hum Genet 62: 824-833, 1998
21. Jinno Y, Yun K, Nishiwaki K, Kubota T, Ogawa O, Reeve AE, Niikawa N: Mosaic and polymorphic imprinting of the WT1 in humans. Nat Genet 6: 305-309, 1994
22. Mitsuya K, Sui H, Meguro M, Kugoh H, Jinno Y, Niikawa N, Oshimura M: Paternal expression of WT1 in human fibroblasts and lymphocytes. Hum Mol Genet 13: 2243-2246, 1997
23. Gouya L, Deybach JC, Lamoril J, Da Silva V, Beaumont C, Grandchamp B, Nordmann Y: Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele. Am J Hum Genet 58: 292-299, 1996
24. Coppes MJ, Liefers GJ, Higuchi M, Zinn AB, Balfe JW, Williams BRG: Inherited WT1 mutation in Denys-Drash syndrome. Cancer Res 52: 6125-6128, 1992
25. Schumacher V, Schärer K, Wühl E, Altrogge H, Bonzel KE, Guschmann M, Neuhaus TJ, Pollastro RM, Kuwertz-Bröking E, Bulla M, Tondera AM, Mundel P, Helmchen U, Waldherr R, Weirich A, Royer-Pokora B: Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations. Kidney Int 53: 1594-1600, 1998
26. van Heyningen V: Sugar and spice and all things splice? Nat Genet 17: 367-368, 1997