title: 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.
authors.affiliation: Pediatric Nephrologic Department, Necker-Enfants Malades Hospital, Paris, France. salomon@necker.fr
authors.forename: R
authors.initials: R
authors.lastname: Salomon
authors.forename: A L
authors.initials: AL
authors.lastname: Tellier
authors.forename: T
authors.initials: T
authors.lastname: Attie-Bitach
authors.forename: J
authors.initials: J
authors.lastname: Amiel
authors.forename: M
authors.initials: M
authors.lastname: Vekemans
authors.forename: S
authors.initials: S
authors.lastname: Lyonnet
authors.forename: P
authors.initials: P
authors.lastname: Dureau
authors.forename: P
authors.initials: P
authors.lastname: Niaudet
authors.forename: M C
authors.initials: MC
authors.lastname: Gubler
authors.forename: M
authors.initials: M
authors.lastname: Broyer
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001483:Base Sequence / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D003103:Coloboma / Q000235:genetics / Q000473:pathology; D004268:DNA-Binding Proteins / Q000235:genetics* / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D007668:Kidney / Q000002:abnormalities* / Q000378:metabolism / Q000473:pathology; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D009898:Optic Disk / Q000473:pathology; D009900:Optic Nerve / Q000002:abnormalities; D051762:PAX2 Transcription Factor; D014157:Transcription Factors / Q000235:genetics* / Q000378:metabolism
chemical_list: D004268:DNA-Binding Proteins; D051762:PAX2 Transcription Factor; C497318:PAX2 protein, human; D014157:Transcription Factors