Gonadal mosaicism of frasier syndrome in 3 Chinese siblings with donor splice site mutation of Wilms' tumour gene

Nephron

Volumn 91, Issue 3, 2002, Pages 526-529

  Chak, Wai Leung ^a   To, Ka Fai ^b   Cheng, Yuk Lun ^a,d   Tsui, Kan Ming ^c   Lo, Kwok Wai ^b   Tong, Hung Man ^b   Lai, Fernand Mac Moune ^b   Wong, Francis Kin Ming ^a   Choi, Koon Shing ^a   Chau, Ka Foon ^a   Li, Chun Sang ^a  

^a QUEEN ELIZABETH HOSPITAL   (Hong Kong)

^b CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^c Union Hospital   (Hong Kong)

^d ALICE HO MIU LING NETHERSOLE HOSPITAL   (Hong Kong)

Author keywords

Familial focal glomerulosclerosis; Frasier syndrome; WT1 gene

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CHINESE; CHRONIC KIDNEY FAILURE; DEVELOPMENTAL DISORDER; FAMILY; FEMALE; FRASER SYNDROME; GENETIC SCREENING; GONADAL DYSGENESIS; HUMAN; KARYOTYPE 46,XX; KARYOTYPE 46,XY; MOSAICISM; NEPHROBLASTOMA; PARENT; PRIORITY JOURNAL; SIBLING; SITE DIRECTED MUTAGENESIS; AGED; CHINA; DENYS DRASH SYNDROME; DNA SEQUENCE; FOCAL GLOMERULOSCLEROSIS; GENETICS; GLOMERULUS; GONAD; MALE; MIDDLE AGED; MUTATION; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE; PROTEINURIA; SINGLE STRAND CONFORMATION POLYMORPHISM; TUMOR SUPPRESSOR GENE;

ADOLESCENT; ADULT; AGED; CASE REPORT; CHINA; DENYS-DRASH SYNDROME; FEMALE; GENES, WILMS TUMOR; GENETIC SCREENING; GLOMERULOSCLEROSIS, FOCAL; GONADS; HUMAN; KIDNEY GLOMERULUS; MALE; MIDDLE AGE; MOSAICISM; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEINURIA; SEQUENCE ANALYSIS, DNA; SIBLINGS; GLOMERULOSCLEROSIS, FOCAL SEGMENTAL; HUMANS; MIDDLE AGED;

EID: 0036653572     PISSN: 00282766     EISSN: None     Source Type: Journal    
DOI: 10.1159/000064302     Document Type: Article

References (13)

1. The candidate Wilms' tumour gene is involved in genitourinary development
2. Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome
3. Gonado-blastoma associated with pure gonadal dysgensis in monozygous twins
4. Association of an anatomo-pathological syndrome of male pseudohermaphroditism, Wilms' tumor, parenchymatous nephropathy and XX/XY mosaicism
5. A syndrome of pseudohermaphroditism, Wilms' tumor, hypertension, and degenerative renal disease
6. Donor splice-site mutations in WT1 are responsible for Frasier syndrome
7. Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/- KTS splice isoforms
8. Frasier syndrome: A cause of focal segmental glomerulosclerosis in a 46, XX female
9. Mother-to-child transmitted WT1 splice-site mutation is responsible for distinct glomerular diseases
10. WT1 nephropathy in a girl with normal karyotype (46, XX)
11. Fine structure analysis of the WT1 gene in sporadic Wilms' tumors
12. Genetic counselling in Mendelian disorders