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The incidence of renal-coloboma syndrome, a rare autosomal disorder that displays a large variability in expression, is unknown. In 1995, mutations in the PAX2 gene were identified as the cause of renal-coloboma syndrome. Since then, 19 cases with PAX2 mutations have been described.¹ We recently studied a Brazilian family with renal-coloboma syndrome affecting 9 individuals from 3 generations.² To the best of our knowledge, this family represents the largest pedigree (Figure 1) of renal-coloboma syndrome described to date.

Figure appears in full text version. Figure 1. Schematic pedigree of a Brazilian family with renal-coloboma syndrome. Three generations are shown (I, II, and III). Filled symbols indicate affected individuals; open symbols, unaffected individuals; circles, females; squares, males; and arrow, proband.

Our investigation began with a boy (patient III-17) who was born prematurely for no apparent reason and was diagnosed as having renal failure early in life. He received peritoneal dialysis 4 times a week and . . . [Full Text of this Article]

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