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PMID: 7795640 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't

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

Nature genetics ·Vol. 9 ·No. 4 ·1995-04-00 ·Pages 358-64

Sanyanusin P, Schimmenti LA, McNoe LA, Ward TA, Pierpont ME, Sullivan MJ, Dobyns WB, Eccles MR

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.

Related Genes

PAX2

MeSH Terms

Abnormalities, Multiple/genetics Adolescent Adult Animals Base Sequence Child Chromosome Mapping Coloboma/genetics DNA/genetics DNA-Binding Proteins/genetics Exons Female Frameshift Mutation Genes, Dominant Humans Kidney/abnormalities Male Mice Mice, Mutant Strains Molecular Sequence Data Optic Nerve/abnormalities PAX2 Transcription Factor Pedigree Transcription Factors/genetics Vesico-Ureteral Reflux/genetics

Chemicals

DNA-Binding Proteins PAX2 Transcription Factor PAX2 protein, human Pax2 protein, mouse Transcription Factors DNA

Authors & Affiliations

8 authors, click to expand affiliations / ORCID

Sanyanusin P

Department of Biochemistry, University of Otago, Dunedin, New Zealand.

Schimmenti L A

McNoe L A

Ward T A

Pierpont M E

Sullivan M J

Dobyns W B

Eccles M R

Article Info

Journal

Nature genetics

Abbr.

Nat Genet

ISSN

1061-4036

DOI

10.1038/ng0495-358

Published

1995-04-00

Pages

358-64

Language

English

Region

United States

NLM ID

9216904

Subset

Databases

GENBANK

U45245, U45246, U45247, U45248, U45249, U45250, U45251, U45252, U45253, U45254, U45255

Corrections

ErratumIn

PMID: 8673093

External Links

PubMed source DOI: 10.1038/ng0495-358 View journal details

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

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