A Case of Renal Coloboma Syndrome Caused by Spontaneous Mutation of PAX2 / 罕见病研究

ABSTRACT

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.