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Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux

Nature Genetics volume 9, pages 358–364 (1995)Cite this article

A Correction to this article was published on 01 May 1996

Abstract

Paired box (PAX) genes play a critical role in human development and disease. The PAX2 gene is expressed in primitive cells of the kidney, ureter, eye, ear and central nervous system. We have conducted a mutational analysis of PAX2 in a family with optic nerve colobomas, renal hypoplasia, mild proteinuria and vesicoureteral reflux. We report a single nucleotide deletion in exon five, causing a frame–shift of the PAX2 coding region in the octapeptide domain. The phenotype resulting from the PAX2 mutation in this family was very similar to abnormalities that have been reported in Krd mutant mice. These data suggest that PAX2 is required for normal kidney and eye development.

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Author information

Authors and Affiliations

  1. Cancer Genetics Laboratory, Department of Biochemistry, University of Otago, P.O. Box 56, Dunedin, New Zealand

    Phaikasame Sanyanusin, Leslie A. McNoe, Teresa A. Ward, Michael J. Sullivan & Michael R. Eccles

  2. Department of Pediatrics, University of Minnesota Medical School, Minneapolis, Minnesota, 55455, U.S.A.

    Lisa A. Schimmenti, Mary Ella M. Pierpont & William B. Dobyns

  3. Department of Neurology, University of Minnesota Medical School, Minneapolis, Minnesota, 55455, U.S.A.

    William B. Dobyns

  4. Department of Pediatrics, Dunedin Public Hospital, Dunedin, New Zealand

    Michael J. Sullivan

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  1. Phaikasame Sanyanusin
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Sanyanusin, P., Schimmenti, L., McNoe, L. et al. Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. Nat Genet 9, 358–364 (1995). https://doi.org/10.1038/ng0495-358

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