RESUMEN
This article reports a case of a child with full-length (paired box family, PAX) PAX2 mutation leading to renal coloboma syndrome. The patient is an 11-year-old boy presented with persistent foamy urine and unexplained renal failure. The boy has suffered from vision decline ever since infancy. Genetic testing confirms the mutation of the PAX2 splice site (c.862-1G > A). Sanger sequencing shows no mutation at this site in his parents and demonstrates a spontaneous mutation. His clinical manifestations also confirms diagnosis of renal coloboma syndrome. The PAX2 mutation was responsible for the boy's progression to end-stage renal disease and extrarenal manifestations.
RESUMEN
Papillorenal syndrome,also known as renal coloboma syndrome,is an autosomal donunant inherited condition typically featured by congenital aplasia of kidneys and eyes,most of which occur in childhood.Studies have revealed that a mutation in PAX2 gene is the critical etiology of Papillorenal Syndrome.The PAX2 gene is located at chromosome 10q23-24,encoding PAX2 protein isoform c,which belongs to the transcription factors family paired box family that regulate downstream gene expression and play an important role in development of organs such as the kidney and the eye.Mutations in PAX2 result in structural and functional abnormality of PAX2 protein isoform c,which leads to the dysplasia of the related organs.More than 80 mutations in the PAX2 gene have been currently reported,causing various clinical phenotypes.The mutational analysis of the PAX2 gene would be of help to direct the diagnosis,monitoring and treatment of papillorenal syndrome.This review summarizes the research progress of papillorenal syndrome and mutations in the PAX2 gene.