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Salomon, R. et al.

Salomon, Tellier, Attie-Bitach, Amiel, Vekemans, Lyonnet, Dureau, Niaudet, Gubler, Broyer,

PAX2 mutations in oligomeganephronia.

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.[1]

References

PAX2 mutations in oligomeganephronia. Salomon, R., Tellier, A.L., Attie-Bitach, T., Amiel, J., Vekemans, M., Lyonnet, S., Dureau, P., Niaudet, P., Gubler, M.C., Broyer, M. Kidney Int. (2001) [Pubmed]

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