WT1 intron 9 splice acceptor site mutation in a 46,XY male with focal segmental glomerulosclerosis

Pediatric Nephrology

Volumn 22, Issue 3, 2007, Pages 454-458

  Kanemoto, Katsuyoshi ^a   Ishikura, Kenji ^a   Ariyasu, Daisuke ^a   Hamasaki, Yuko ^a   Hataya, Hiroshi ^a   Hasegawa, Yukihiro ^a   Ikeda, Masahiro ^a  

^a TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

Author keywords

Denys Drash syndrome; Focal segmental glomerulosclerosis; Frasier syndrome; Intron 9 splice acceptor site; WT1

Indexed keywords

ALBUMIN; CHORIONIC GONADOTROPIN; CREATININE; FOLLITROPIN; GONADORELIN; LUTEINIZING HORMONE; NITROGEN; TESTOSTERONE; UREA; WT1 PROTEIN;

ALBUMIN BLOOD LEVEL; ARTICLE; BINDING SITE; CASE REPORT; CHRONIC KIDNEY FAILURE; CRYPTORCHISM; DISEASE COURSE; DISEASE SEVERITY; FOCAL GLOMERULONEPHRITIS; FOLLITROPIN BLOOD LEVEL; GENE MUTATION; HEMATURIA; HUMAN; HUMAN TISSUE; HYPOALBUMINEMIA; HYPOGONADISM; INTRON; JAPANESE; KARYOTYPE 46,XY; KIDNEY BIOPSY; KIDNEY DISEASE; KIDNEY HYPOPLASIA; LIVER TRANSPLANTATION; LUTEINIZING HORMONE BLOOD LEVEL; MALE; NEPHRECTOMY; ORCHIDOPEXY; PERITONEAL DIALYSIS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEINURIA; TESTOSTERONE BLOOD LEVEL; UREA NITROGEN BLOOD LEVEL;

CHILD, PRESCHOOL; CRYPTORCHIDISM; DENYS-DRASH SYNDROME; FRASIER SYNDROME; GLOMERULOSCLEROSIS, FOCAL SEGMENTAL; HUMANS; INTRONS; KIDNEY; MALE; MUTATION; PSEUDOHERMAPHRODITISM; RNA SPLICE SITES; SEQUENCE ANALYSIS, DNA; WT1 PROTEINS;

EID: 34248642556     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-006-0333-x     Document Type: Article

References (21)

1. Call KM, Glaser T, Ito CY, Buckler AJ, Pelletier J, Haber DA, Rose EA, Kral A, Yeger H, Lewis WH (1990) Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms-tumor locus. Cell 60:509-520
2. Gesseler M, Poustka A, Cavenee W, Neve RL, Orkin SH, Bruns GA (1990) Homozygous deletion in Wilms tumors of a zinc-finger gene identified by chromosome jumping. Nature 343:774-778
3. Haber DA, Sohn RL, Buckler AJ, Pelletier J, Call KM, Housman DE (1991) Alternative splicing and genomic structure of the Wilms tumor gene WT1. Proc Natl Acad Sci USA 88:9618-9622
4. Pelletier J, Bruening W, Kashtan CE, Mauer SM, Manivel JC, Striegel JE, Houghton D, Junien C, Habib R, Fouser L, Fine RN, Silverman BL, Haber DA, Housman D (1991) Germline mutations in the Wilms-tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. Cell 67:437-447
5. Reddy JC, Morris JC, Wang J, English MA, Haber DA, Shi Y, Licht JD (1995) WT1-mediated transcriptional activation is inhibited by dominant negative mutant proteins. J Biol Chem 270:10878-10884
6. Moorthy AV, Chesney RW, Lubinsky M, Gilbert EF (1987) Chronic renal failure and XY gonadal dysgenesis: "Frasier" syndrome-a commentary on reported cases. Am J Med Genet 3:297-302
7. Klamt B, Koziell A, Poulat F, Wieacker P, Scambler P, Berta P, Gessler M (1998) Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/- KTS splice isoforms. Hum Mol Genet 7:709-714
8. Jeanpierre C, Denamur E, Henly I, Cabanis M-O, Luce S, Cecille A, Elion J, Peuchmaur M, Loirat C, Niaudet P, Gubler M-C, Junien C (1998) Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database. Am J Hum Genet 62:824-833
9. Denamur E, Bocquet N, Mougenot B, Silva FD, Martinat L, Loirat C, Elion J, Bensman A, Ronco P (1999) Mother-to-child transmitted WT1 splice-site mutation is responsible for distinct glomerular diseases. J Am Soc Nephrol 10:2219-2223
10. McTaggart SJ, Algar E, Cow CW, Powell HR, Jones CL (2001) Clinical spectrum of Denys-Drash and Frasier syndrome. Pediatr Nephrol 16:335-339
11. Kohsaka T, Tagawa M, Takekoshi Y, Yanagisawa H, Tadokoro K, Yamada M (1999) Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome. Hum Mutat 14:466-470
12. Kaltenis P, Schumacher V, Jankauskiene A, Laurinavicius A, Royer-Pokora B (2004) Slow progressive FSGS associated with an F392L WT1 mutation. Pediatr Nephrol 19:353-356
13. Algar E, Blackburn D, Kromykh T, Taylor G, Smith P (1997) Mutation analysis of the WT1 gene in sporadic childhood leukemia. Leukemia 11:110-113
14. Tajima T, Sasaki S, Tanaka Y, Kusunoki H, Nagashima T, Nonomura K, Fujieda K (2003) 46,XY phenotypic male with focal segmental glomerulosclerosis caused by the WT1 splice site mutation. Horm Res 60:302-305
15. Denamur E, Bocque N, Baudouin V, Da Silva F, Veitia R, Peuchmaur M, Elionm J, Gubler MC, Fellous M, Niaudet P, Loirat C (2000) WT1 splice-site mutations are rarely associated with primary steroid-resistant focal and segmental glomerulosclerosis. Kidney Int 57:1868-1872
16. Melo KFS, Martin RA, Costa EMF, Caravalho FM, Jorge AA, Arnhold IVP, Mendonca BB (2002) An unusual phenotype of Frasier syndrome due to IVS+ → T mutation in the WT1 gene: Predominantly male ambiguous genitalia and absence of gonadal dysgenesis. J Clin Endocrinol Metab 87:2500-2505
17. Tanaka A, Kikuchi H, Fukuzawa R, Ito S, Honda M, Hata J (2000) Constitutional WT1 mutations correlate with clinical features in children with progressive nephropathy. J Med Genet 37:698-701
18. Kikuchi H, Takata A, Akasaka Y, Fukuzawa R, Yoneyama H, Kurosawa Y, Honda M, Kamiyama Y, Hata J (1998) Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome? J Med Genet 35:45-48
19. Mucha B, Ozaltin F, Hinkes BG, Hasselbacher K, Ruf RG, Schultheiss M, Hangan D, Hoskins BE, Everding AS, Bogdanovic R, Seeman T, Hoppe B, Hildebrandt F, and Members of the APN study group (2006) Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephritic syndrome and occur in exons 8 and 9. Pediatr Res 59:325-331
20. Ruf RG, Schultheiss M, Lichtenberger A, Karle SM, Zalewski I, Mucha B, Everding AS, Neuhaus T, Patzer L, Plank C, Haas JP, Ozaltin F, Imm A, Fuchshuber A, Bakkaloglu A, Hildebrandt F, and Members of the APN study group (2004) Prevalence of WT1 mutations in a large cohort of patients with steroid-sensitive nephrotic syndrome. Kidney Int 66:564-570
21. Aucella F, Bisceglia L, De Bonis P, Gigante M, Caridi F, Barbano G, Mattioli G, Perfumo F, Gesualdo L, Ghiggeri GM (2006) WT1 mutations in nephrotic syndrome revisited. High prevalence in young girls, associations and renal phenotypes. Pediatr Nephrol 21:1393-1398