An Infant Case of Renal Coloboma Syndrome with Novel PAX2 Gene Mutation

Abstract

Renal coloboma syndrome is a rare syndrome that presents as abnormalities of the optic nerve, retina and kidney; it is primarily caused by mutation of the PAX2 gene. Many of the kidney diseases associated with this syndrome are related to renal hypodysplasia, and many of the patients affected by it experience renal failure, although progress varies. The PAX2 gene abnormality that causes this syndrome was reported for the first time in 1995, but the exact frequency of occurrence is still unknown.

We investigated a case of renal coloboma syndrome that had been diagnosed in a 3-year-old child and was caused by a novel PAX2 gene mutation. We suspected the disease because the mother noticed a pupil abnormality caused by optic nerve coloboma, and the patient presented with a lack of weight gain, renal hypoplasia, and renal dysfunction. We therefore investigated the PAX2 gene and found a novel mutation in exon 3 (c.220G>T,E74*). Because there is no family history of the disease, we consider it to be an isolated case. Currently, there is no exacerbation of renal dysfunction, but careful follow-up observation is required in the future.