Diaphragmatic hernia in Denys-Drash syndrome.
We report on a newborn infant with male pseudohermaphroditism and glomerular lesions (Denys-Drash syndrome) but without Wilms tumor. A constitutional heterozygous mutation in the WT1 gene (366Arg to His) was identified. In addition the child had a large diaphragmatic hernia, so far not described in Denys-Drash syndrome. The expression of the WT1 gene in pleural and abdominal mesothelium and the occurrence of diaphragmatic hernia in transgenic mice with a homozygous WT1 deletion strongly suggests that the diaphragmatic hernia in this patient is part of the malformation pattern caused by WT1 mutations.
Devriendt
K
K
Department of Pediatrics, University Hospital Leuven, Belgium.
Deloof
E
E
Moerman
P
P
Legius
E
E
Vanhole
C
C
de Zegher
F
F
Proesmans
W
W
Devlieger
H
H
D000818:Animals; D001120:Arginine; D001483:Base Sequence; D002880:Chromosomes, Human, Pair 11; D004268:DNA-Binding Proteins / Q000235:genetics*; D012734:Disorders of Sex Development / Q000150:complications / Q000235:genetics*; D005091:Exons; D005260:Female; D017353:Gene Deletion; D016147:Genes, Tumor Suppressor; D006059:Gonadal Dysgenesis / Q000235:genetics* / Q000473:pathology; D006548:Hernia, Diaphragmatic / Q000150:complications / Q000235:genetics* / Q000473:pathology; D006579:Heterozygote; D006639:Histidine; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D007678:Kidney Glomerulus / Q000002:abnormalities / Q000473:pathology*; D051379:Mice; D008822:Mice, Transgenic; D008969:Molecular Sequence Data; D010053:Ovary / Q000473:pathology; D017354:Point Mutation; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*; D025721:WT1 Proteins
D004268:DNA-Binding Proteins; D014157:Transcription Factors; D025721:WT1 Proteins; D006639:Histidine; D001120:Arginine