Distinct molecular origins for Denys-Drash and Frasier syndromes.
The direct involvement of the Wilm's tumor suppressor gene (WT1) in Denys-Drash syndrome through mutations within exons 8 or 9 has recently been established. The absence of such alterations in three patients with Frasier syndrome provides a molecular basis for distinguishing these two syndromes that are associated with streak gonads, pseudohermaphroditism and renal failure.
Poulat
F
F
Centre de Recherches de Biochimie Macromoléculaire, CNRS UPR 9008, INSERM U249, Montpellier, France.
Morin
D
D
König
A
A
Brun
P
P
Giltay
J
J
Sultan
C
C
Dumas
R
R
Gessler
M
M
Berta
P
P
D001483:Base Sequence; D004277:DNA, Single-Stranded; D005260:Female; D016162:Genes, Wilms Tumor; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006801:Humans; D007676:Kidney Failure, Chronic / Q000235:genetics*; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D013577:Syndrome; D009396:Wilms Tumor / Q000235:genetics*
D004277:DNA, Single-Stranded