Frasier syndrome: A rare syndrome with WT1 gene mutation in pediatric urology;Frasier-syndrom: Ein seltenes syndrom mit WT1-genmutation in der kinderurologie

Aktuelle Urologie

Volumn 37, Issue 1, 2006, Pages 64-66

  Zugor, Vahudin ^a   Zenker, M ^a   Schrott, K M ^a   Schott, G E ^a  

^a UNIVERSITY HOSPITAL ERLANGEN   (Germany)

Author keywords

Frasier syndrome; Glomerulonephritis; Gonadal blastoma; WT1 gene mutation

Indexed keywords

CARRIER PROTEIN; DNA BINDING PROTEIN; NUCLEAR PROTEIN; WTAP PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; ATROPHY; CASE REPORT; CHILD; CHRONIC KIDNEY FAILURE; FEMALE; FOCAL GLOMERULOSCLEROSIS; FRASIER SYNDROME; GENETICS; HUMAN; INTRON; MALE; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PHENOTYPE; RNA SPLICING; TESTIS;

ADOLESCENT; ADULT; ATROPHY; CARRIER PROTEINS; CHILD; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; FRASIER SYNDROME; GERM-LINE MUTATION; GLOMERULOSCLEROSIS, FOCAL SEGMENTAL; HUMANS; INTRONS; KIDNEY FAILURE, CHRONIC; MALE; NUCLEAR PROTEINS; PHENOTYPE; RNA SPLICE SITES; TESTIS;

EID: 33644549940     PISSN: 00017868     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2005-870912     Document Type: Article

References (5)

1. Barbaux S et al. Donor splice-site mutations in WT1 are responsible for Frasier syndrome. Nature Genet 1997; 17: 467-70
2. Barbosa AS et al. The same mutation affecting the splicing of WT1 gene is present on Frasier Syndrome Patients with or without Wilms-tumor. Hum Mut 1999; 13: 146-153
3. Demmer L et al. Frasier syndrome: a cause of focal segmental glomerulosclerosis in a 46, XX female. 1999
4. Denamur E et al. Mother-to-child transmitted WT1 splice-site mutation is responsible for distinct glomerular diseases. J Am Soc Nephrol 1999; 10: 2219-23
5. Frasier SD, Bashore RA, Mosier HD. Gonadoblastoma associated with pure gonadal dysgenesis in monozygotic twins. J Pediat 1964; 64: 740-745