Frasier syndrome: A rare cause of delayed puberty

Hong Kong Medical Journal

Volumn 12, Issue 3, 2006, Pages 225-227

  Chan, W K Y ^a   To, K F ^b   But, W M ^a   Lee, K W ^a  

^a QUEEN ELIZABETH HOSPITAL   (Hong Kong)

^b CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

Denys Drash syndrome; Genes, Wilms tumor; Pseudohermaphroditism; Puberty, delayed; WT1 proteins

Indexed keywords

CYSTEINE; GONADOTROPIN; THREONINE; WT1 PROTEIN;

ADOLESCENT; ARTICLE; BLOOD ANALYSIS; CASE REPORT; CHILDHOOD DISEASE; CHRONIC DISEASE; DELAYED PUBERTY; DNA SPLICING; DONOR SITE; FEMALE; FRASIER SYNDROME; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GLOMERULOPATHY; GONADECTOMY; HETEROZYGOTE; HUMAN; HYPOGONADISM; INTRON; KARYOTYPE 46,XY; KIDNEY TRANSPLANTATION; LAPAROSCOPIC SURGERY; NUCLEOTIDE SEQUENCE; PHENOTYPE;

ADOLESCENT; CASTRATION; FEMALE; FRASIER SYNDROME; HUMANS; HYPOGONADISM; MUTATION; NEPHROTIC SYNDROME; PHENOTYPE; PUBERTY, DELAYED; WT1 PROTEINS;

EID: 33745241855     PISSN: 10242708     EISSN: 10242708     Source Type: Journal    
DOI: None     Document Type: Article

References (8)

1. Frasier SD, Bashore RA. Mosier HD. Gonadoblastoma associated with pure gonadal dysgenesis in monozygous twins. J Pediatr 1964;64:740-5.
2. Barbaux S, Niaudet P, Gubler MC, et al. Donor splice-site mutations in WT1 are responsible for Frasier syndrome. Nat Genet 1997;17:467-70.
3. Scharnhorst V, van der Eb AJ, Jochemsen AG. WT1 proteins: functions in growth and differentiation. Gene 2001;273:141-61.
4. Schumacher V, Schärer K, Wühl E, et al. Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations. Kidney Int 1998;53:1594-600.
5. Auber F, Lortat-Jacob S, Sarnacki S, et al. Surgical management and genotype/phenotype correlations in WT1 gene-related diseases (Drash, Frasier syndromes). J Pediatr Surg 2003;38:124-9.
6. Koziell AB, Grundy R, Barratt TM, Scambler P. Evidence for genetic heterogeneity of nephropathic phenotypes associated with Denys-Drash and Frasier syndromes. Am J Hum Genet 1999;64:1778-81.
7. Chak WL, To KF, Cheng YL, et al. Gonadal mosaicism of Frasier syndrome in 3 Chinese siblings with donor splice site mutation of Wilms' tumour gene. Nephron 2002;91:526-9.
8. Klamt B, Koziell A, Poulat F, et al. Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms. Hum Mol Genet 1998;7:709-14.