Molecular analysis of Frasier syndrome: Mutation in the WT1 gene in a girl with gonadal dysgenesis and nephronophthisis

Journal of Pediatric Endocrinology and Metabolism

Volumn 15, Issue 7, 2002, Pages 1047-1050

  Perez de Nanclares G ^a   Castano L ^a   Bilbao, J R ^a   Vallo, A ^a   Rica, I ^a   Vela, A ^a   Martul, P ^a  

^a HOSPITAL DE CRUCES   (Spain)

Author keywords

Frasier syndrome; Gonadal dysgenesis; Nephronophthisis; Streak gonads; Wilms' tumor; WT1 gene

Indexed keywords

DIURETIC AGENT; GROWTH HORMONE; PREDNISONE; TRANSCRIPTION FACTOR; ALANINE; GLYCINE; WT1 PROTEIN;

ADULT; ARTICLE; CASE REPORT; DENYS DRASH SYNDROME; DISEASE ASSOCIATION; FEMALE; FOLLOW UP; FRASIER SYNDROME; GENE MUTATION; GERM LINE; GLOMERULOPATHY; GONADAL DYSGENESIS; GONADOBLASTOMA; GROWTH RETARDATION; HEMODIALYSIS; HUMAN; INTRON; KARYOTYPE 46,XY; KIDNEY FAILURE; KIDNEY GRAFT REJECTION; KIDNEY TRANSPLANTATION; MALE PSEUDOHERMAPHRODITISM; NEPHROBLASTOMA; NEPHRONOPHTHISIS; NUCLEIC ACID BASE SUBSTITUTION; PHENOTYPE; SEQUENCE ANALYSIS; TUMOR SUPPRESSOR GENE; UROGENITAL TRACT MALFORMATION; WAGR SYNDROME; GENETICS; GLOMERULUS; KARYOTYPING; KIDNEY DISEASE; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; OVARY TUMOR;

ADULT; ALANINE; BASE SEQUENCE; DENYS-DRASH SYNDROME; FEMALE; GLYCINE; GONADAL DYSGENESIS; GONADOBLASTOMA; HUMANS; INTRONS; KARYOTYPING; KIDNEY DISEASES; KIDNEY GLOMERULUS; MOLECULAR SEQUENCE DATA; MUTATION; OVARIAN NEOPLASMS; WT1 PROTEINS;

EID: 0035993340     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.2002.15.7.1047     Document Type: Article

References (15)

1. Gonadoblastoma associated with pure gonadal dysgenesis in monozygotic twins
2. Nephropathy-gonadal dysgenesis type 2: Renal failure in three siblings with dysgenesis in one
3. Chronic renal failure and XY gonadal dysgenesis: "Frasier" syndrome - A commentary on reported cases
4. XY gonadal dysgenesis with gonadoblastoma discovered after kidney transplantation
5. Frasier syndrome is caused by defective alternative splicing leading to an altered ratio of WT1 +/-KTS splicing isoforms
6. Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus
7. Alternative splicing and genomic structure of the Wilms tumor gene WT1
8. Wilms' tumor suppressor gene WT1: From structure to renal pathophysiologic features
9. Frasier syndrome with childhood-onset renal failure
10. Donor splice-site mutations in WT1 are responsible for Frasier syndrome
11. Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome?
12. Mother-to-child transmitted WT1 splice-site mutations is responsible for distinct glomerular diseases
13. Transcriptional regulation of PDGF-A and TGF-beta by +KTS WT1 deletion mutants and a mutant mimicking Denys-Drash syndrome
14. Frasier syndrome: A cause of focal segmental glomerulosclerosis in a 46,XX female
15. Absent pubertal development in a child with chronic renal failure: The case of Frasier syndrome