Denys-Drash syndrome and congenital diaphragmatic hernia: another case with the 1097G > A(Arg366His) mutation.
Congenital diaphragmatic hernia (CDH) is a disorder of the development of the lung and diaphragm and is associated with pulmonary hypoplasia and pulmonary hypertension. Denys-Drash syndrome (DDS) is a well-known syndrome caused by several different germline mutations in the WT1-gene. CDH in DDS is rare. We present the third case of CDH with clinical features of DDS and the same, rare Arg366His mutation in the WT1-gene, as reported in the other two known cases. This report provides additional evidence that WT1 mutations can result in diaphragmatic hernia.
Antonius
Timothy
T
Department of Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands. t.antonius@cukz.umcn.nl
van Bon
Bregje
B
Eggink
Alex
A
van der Burgt
Ineke
I
Noordam
Kees
K
van Heijst
Arno
A
D001120:Arginine / Q000235:genetics; D030321:Denys-Drash Syndrome / Q000150:complications* / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D016162:Genes, Wilms Tumor; D006548:Hernia, Diaphragmatic / Q000150:complications* / Q000235:genetics; D065630:Hernias, Diaphragmatic, Congenital; D006639:Histidine / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D017354:Point Mutation
D006639:Histidine; D001120:Arginine