Renal-coloboma syndrome: Prenatal detection and clinical spectrum in a large family

Renal-coloboma syndrome includes abnormalities in the urogenital and ocular systems as its primary manifestations, although it can be associated with abnormalities in other systems as well, This syndrome is caused by mutation s in the PAX2 gene and is transmitted as an autosomal dominant trait. We re port a family in which at least 7 members have manifestations of renal-colo boma syndrome, including two in whom renal disease was diagnosed prenatally by ultrasound examination, A pathogenic frame-shift mutation (619insG) was found in the PAX2 gene in affected family members, who show remarkable var iability in both the ocular and renal manifestations of the syndrome. (C) 2 001 Wiley-Liss, Inc.