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Multicystic Dysplastic Kidney and Variable Phenotype in a Family with a Novel Deletion Mutation of PAX2

Jeffery Fletcher^*, Min Hu^*, Yemima Berman, Felicity Collins, John Grigg, Margot McIver, Harald Jüppner^|| and Stephen I. Alexander^*

^* Centre for Kidney Research, Department of Nephrology, and Departments of; Clinical Genetics; Ophthalmology, The University of Sydney, The Children’s Hospital at Westmead, Westmead, New South Wales, Australia; Department of Nephrology, Dubbo Base Hospital, Dubbo, New South Wales; and ^|| Pediatric Nephrology, Massachusetts’s General Hospital for Children, Harvard University, Boston, Massachusetts

Address correspondence to: Dr. Stephen I. Alexander, Centre for Kidney Research, Department of Nephrology, The Children’s Hospital at Westmead, Locked Bag 4001, Westmead, New South Wales 2145, Australia. Phone: 61-2-9845-3430; Fax: 61-2-9845-3432; stephena{at}chw.edu.au

Received for publication March 2, 2005. Accepted for publication May 31, 2005.

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.

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Copyright © 2008 by the American Society of Nephrology. Online ISSN: 1533-3450 Print ISSN: 1046-6673