Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome

Human Mutation

Volumn 14, Issue 6, 1999, Pages 466-470

  Kohsaka, Takao ^a,b   Tagawa, Manabu ^b   Takekoshi, Yasuro ^c   Yanagisawa, Hiroko ^a   Tadokoro, Keiko ^a   Yamada, Masao ^a  

^a NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^b NATIONAL CHILDREN S HOSPITAL   (Japan)

^c HOKKAIDO UNIVERSITY   (Japan)

Author keywords

Denys Drash syndrome; Frasier syndrome; KTS; Nephropathy; WT1

Indexed keywords

DNA; FOLLITROPIN; LUTEINIZING HORMONE; PROTEIN; TESTOSTERONE;

ADULT; ARTICLE; CASE REPORT; DENYS DRASH SYNDROME; DNA SEQUENCE; EXON; GENE; GENE MUTATION; GLOMERULOPATHY; HUMAN; INTRON; KIDNEY BIOPSY; MALE; NEPHROBLASTOMA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PSEUDOHERMAPHRODITISM; SINGLE STRAND CONFORMATION POLYMORPHISM; SYNDROME; TUMOR SUPPRESSOR GENE;

ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; DNA; DNA PRIMERS; DNA-BINDING PROTEINS; EXONS; GENES, WILMS TUMOR; HUMANS; KIDNEY DISEASES; MALE; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; PROTEIN ISOFORMS; PSEUDOHERMAPHRODITISM; RNA SPLICING; SYNDROME; TRANSCRIPTION FACTORS; WT1 PROTEINS;

EID: 0032763264     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(199912)14:6<466::AID-HUMU4>3.0.CO;2-6     Document Type: Article

References (15)

1. Azuma N, Nishina S, Yanagisawa H, Okuyama T, Yamada M. 1996. PAX6 missense mutation in isolated foveal hypoplasia. Nat Genet 13:141-142.
2. Barbaux S, Niaudet P, Gubler MC, Grufeld JP, Jaubert F, Kuttenn F, Fekete CN, Souleyreau-Therville N, Thiboud E, Fellous M, McElreavey K. 1997. Donor splice-site mutations in WT1 are responsible for Frasier syndrome. Nat Genet 17:467-470.
3. Denys P, Malvaux P, van den Berghe H, Tanghe W, Proesmans W. 1967. Association of an anatomo-pathological syndrome of male pseudohermaphroditism Wilms' tumor parenchymatous nephropathy and XX/XY mosaicism (in French). Arch Fr Pediatr 24:729-739.
4. Drash A, Sherman F, Hartmann WH, Blizzard RM. 1970. A syndrome of pseudohermaphroditism Wilms' tumor hypertension and degenerative renal disease. J Pediatr 76:585-593.
5. Frasier SD, Bashore RA, Mosier HD. 1964. Gonadoblasczoma associated with pure gonadal dysgenesis in monozygous twins. J Pediatr 64:740-745.
6. Habib R, Loirat C, Gubler MC, Niaudet P, Bensman A, Levy M, Broyer M. 1985. The nephropathy associated with male pseudohermaphroditism and Wilms' tumor (Drash syndrome): a distinctive glomerular lesion - report of 10 cases. Clin Nephrol 24:269-278.
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. Little M, Wells CA. 1997. Clinical overview of WT1 gene mutations. Hum Mutat 9:209-225.
9. Moorthy AV, Chesneym RW, Lubinsky M. 1987. Chronic renal failure and XY gonadal dysgenesis: "Frasier" syndrome - a commentary on reported cases. Am J Med Genet Suppl 3:297-302.
10. Ogawa O, Eccles MR, Yun K, Mueller RF, Holdaway MD, Reeve AE. 1993. A novel insertional mutation at the third zinc finger coding region of the WT1 gene in Denye-Drash syndrome. Hum Mol Genet 2:203-204.
11. Pelletier J, Bruening W, Kashtan CE, Mauer SM, Manivel JC, Striegel JE, Houghton DC, Junien C, Habib R, Fouser L. 1991. Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. Cell 67:437-447.
12. Poulat F, Morin D, Konig A, Brun P, Giltay J, Sultan C, Dumas R, Gessler M, Berta P. 1993. Distinct molecular origins for Denys-Drash and Frasier syndromes. Hum Genet 91:285-286.
13. Sakai A, Tadokoro K, Yanagisawa H, Nagafuchi S, Hoshikawa N, Suzuki T, Kohsaka T, Hasegawa T, Nakahori Y, Yamada M. 1993. A novel mutation of the WT1 gene (a tumor suppressor gene for Wilms' tumor) in a patient with Denys-Drash syndrome. Hum Mol Genet 2:1969-1970.
14. Schumacher V, Scharer K, Wuhl E, Altrogge H, Bonzel KE, Guschmann M, Neuhaus TJ, Pollasstro RM, Kuwertz-Broking E, Bulla M, Tondera AM, Mundel P, Helchen U, Waldher R, Weirich A, Royer-Pokora B. 1998. Spectrum of early onset nephrotic syndrome associated with WT1 missense mutation. Kidney Int 56:1594-1600.
15. Tadokoro K, Fujii H, Ohshima A, Kakizawa Y, Shimizu K, Sakai A, Sumiyoshi K, Inoue T, Hayashi Y, Yamada M. 1992. Intragenic homozygous deletion of the WT1 gene in Wilms' tumor. Oncogene 7:1215-1221.