Multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2.
The renal coloboma syndrome (OMIM 120330) is caused by mutations in the PAX2 gene. Typical findings in these patients include renal hypoplasia, renal insufficiency, vesicoureteric reflux, and optic disc coloboma. A family with a novel heterozygous 10-bp deletion in exon 2 of the PAX2 gene leading to a truncating mutation and variable phenotype across three generations is reported. The first presentation of multicystic dysplastic kidney in this syndrome is reported. The possibility that abnormal PAX2 protein in this case may cause a dominant negative effect also is discussed. The finding of multicystic dysplastic kidney in renal coloboma syndrome could suggest that PAX2 may play a role in early ureteric obstruction and subsequent renal maldevelopment.
Fletcher
Jeffery
J
Centre for Kidney Research, Department of Nephrology, The Children's Hospital at Westmead, Westmead, Australia.
Hu
Min
M
Berman
Yemima
Y
Collins
Felicity
F
Grigg
John
J
McIver
Margot
M
Jüppner
Harald
H
Alexander
Stephen I
SI
D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D002675:Child, Preschool; D003103:Coloboma / Q000150:complications / Q000235:genetics* / Q000473:pathology; D004247:DNA / Q000235:genetics; D005091:Exons; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D051762:PAX2 Transcription Factor / Q000172:deficiency / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D016891:Polycystic Kidney, Autosomal Dominant / Q000150:complications / Q000235:genetics* / Q000473:pathology; D017384:Sequence Deletion; D013577:Syndrome
D051762:PAX2 Transcription Factor; C497318:PAX2 protein, human; D004247:DNA