DIAPHRAGMATIC-HERNIA IN DENYS-DRASH SYNDROME

We report on a newborn infant with male pseudohermaphroditism and glom erular lesions (Denys-Drash syndrome) but without Wilms tumor, A const itutional heterozygous mutation in the WT1 gene ((366)Arg 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 diaphr agmatic hernia in transgenic mice with a homozygous WT1 deletion stron gly suggests that the diaphragmatic hernia in this patient is part of the malformation pattern caused by WT1 mutations. (C) 1995 Wiley-Liss, Inc.