Genetic Disorders – Development
Kidney International (2001) 59, 457–462; doi:10.1046/j.1523-1755.2001.059002457.x
PAX2 mutations in oligomeganephronia
Rémi Salomon, Anne-Lorraine Tellier, Tania Attie-Bitach, Jeanne Amiel, Michel Vekemans, Stanislas Lyonnet, Pascal Dureau, Patrick Niaudet, Marie-Claire Gubler and Michel Broyer
Pediatric Nephrologic, Ophtalmologic and Genetic Departments, Necker-Enfants Malades Hospital, Paris, France
Correspondence: Remi Salomon, M.D., Ph.D., Pediatric Nephrology Division, Hôpital Necker-Enfants Malades, 149, rue de Sevres, 75743 Paris cedex 15, France. E-mail: salomon@necker.fr
Received 1 February 2000; Revised 31 July 2000; Accepted 12 September 2000.
Abstract
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.
Keywords:
coloboma, transcription factor, inheritance, renal hypoplasia, retinal defects in Pax2, optic disk dysplasia in OMN
