Multicystic Dysplastic Kidney and Variable Phenotype in a Family with a Novel Deletion Mutation of PAX2
作者： Jeffery Fletcher , Min Hu , Yemima Berman , Felicity Collins , John Grigg
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摘要: The renal coloboma syndrome (OMIM 120330) is caused by mutations in the PAX2 gene. Typical findings these patients include hypoplasia, insufficiency, vesicoureteric reflux, and optic disc coloboma. A family with a novel heterozygous 10-bp deletion exon 2 of gene leading to truncating mutation variable phenotype across three generations reported. first presentation multicystic dysplastic kidney this possibility that abnormal protein case may cause dominant negative effect also discussed. finding could suggest play role early ureteric obstruction subsequent maldevelopment.
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