PAX2 mutations in oligomeganephronia

Abstract

Background. Oligomeganephronia (OMN) is a rare congenital and usually sporadic anomaly. It is characterized by bilateral renal hypoplasia, with a reduced number of enlarged nephrons. The mechanisms involved in this deficient nephrogenesis are unknown. The paired box transcription factor PAX2 plays a fundamental role in renal development. Heterozygous Pax2 mutants in mice are characterized by renal hypoplasia and retinal defects, and in humans, PAX2 mutations have been described in the renal-coloboma syndrome. Methods. To assess whether OMN could be related to PAX2, we searched for PAX2 mutations in nine patients presenting with sporadic and apparently isolated OMN. Results. Heterozygous PAX2 mutations were found in three patients. A limited optic nerve coloboma was secondarily detected in two cases and a very mild optic disk dysplasia in one patient. None of these patients had visual impairment. Conclusions. Ocular anomaly and PAX2 mutations should be sought in all patients with OMN.