Gonadal mosaicism of Frasier syndrome in 3 Chinese siblings with donor splice site mutation of Wilms' tumour gene.
Frasier syndrome is a rare human developmental disorder classically affecting 46,XY females and leading to male pseudohermaphroditism and chronic renal failure. We describe a family with both 46,XX and 46,XY females affected by the syndrome due to WT1 splice site mutations. The diagnosis of Frasier syndrome in 1 of the children led to the discovery of the syndrome in 2 other siblings, of whom 1 is asymptomatic. Since the mutation was not found in either parents, gonadal mosaicism was suggested. The implication of family screening for WT1 gene mutation in asymptomatic members is also discussed.
Chak
Wai Leung
WL
Department of Medicine, Queen Elizabeth Hospital, The Chinese University of Hong Kong, Hong Kong, China.
To
Ka Fai
KF
Cheng
Yuk Lun
YL
Tsui
Kan Ming
KM
Lo
Kwok Lai
KL
Tong
Hung Man
HM
Lai
Fernand Mac-Moune
FM
Wong
Francis Kin Ming
FK
Choi
Koon Shing
KS
Chau
Ka Foon
KF
Li
Chun Sang
CS
D000293:Adolescent; D000328:Adult; D000368:Aged; D002681:China; D030321:Denys-Drash Syndrome / Q000235:genetics*; D005260:Female; D016162:Genes, Wilms Tumor; D005820:Genetic Testing; D005923:Glomerulosclerosis, Focal Segmental / Q000503:physiopathology; D006066:Gonads; D006801:Humans; D007678:Kidney Glomerulus / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009030:Mosaicism / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D011507:Proteinuria / Q000503:physiopathology; D017422:Sequence Analysis, DNA; D035781:Siblings