PAX2 mutations in oligomeganephronia

Kidney Int. 2001 Feb;59(2):457-62. doi: 10.1046/j.1523-1755.2001.059002457.x.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Base Sequence / genetics
  • Child
  • Child, Preschool
  • Coloboma / genetics
  • Coloboma / pathology
  • DNA-Binding Proteins / genetics*
  • DNA-Binding Proteins / metabolism
  • Heterozygote
  • Humans
  • Kidney / abnormalities*
  • Kidney / metabolism
  • Kidney / pathology
  • Middle Aged
  • Molecular Sequence Data
  • Mutation* / genetics
  • Optic Disk / pathology
  • Optic Nerve / abnormalities
  • PAX2 Transcription Factor
  • Transcription Factors / genetics*
  • Transcription Factors / metabolism


  • DNA-Binding Proteins
  • PAX2 Transcription Factor
  • PAX2 protein, human
  • Transcription Factors