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 …
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 …