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.
Salomon
R
R
Pediatric Nephrologic Department, Necker-Enfants Malades Hospital, Paris, France. salomon@necker.fr
Tellier
A L
AL
Attie-Bitach
T
T
Amiel
J
J
Vekemans
M
M
Lyonnet
S
S
Dureau
P
P
Niaudet
P
P
Gubler
M C
MC
Broyer
M
M
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
D004268:DNA-Binding Proteins; D051762:PAX2 Transcription Factor; C497318:PAX2 protein, human; D014157:Transcription Factors