%0 Journal Article
%T A wide spectrum of phenotypes in a family with renal coloboma syndrome caused by a PAX2 mutation.
%A Adam J
%A Browning AC
%A Vaideanu D
%A Heidet L
%A Goodship JA
%A Sayer JA
%J Clin Kidney J
%V 6
%N 4
%D Aug 2013
%M 27293569
%F 5.86
%R 10.1093/ckj/sft058
%X Renal coloboma syndrome (RCS) is a rare inherited condition exhibiting a variable clinical phenotype of renal and ocular abnormalities. In 50% of cases, mutations can be found in the transcription factor PAX2. We present three generations of a family with a PAX2 mutation who showed variable eye and renal phenotypes. Renal phenotypes ranged from normal kidneys with the absence of proteinuria to end-stage renal disease (ESRD) at 17 years of age. Eye phenotypes included the typical morning glory anomaly, macular retinal pigment epithelial changes and retinal venous tortuosity. We identified a PAX2 mutation c.228_251dup [p.Ser77_Gly84dup] which segregated with the phenotype in an autosomal dominant fashion. A molecular genetic diagnosis allowed identification and management of at-risk family members. Given the phenotypic variability, clinicians need to consider the possibility of RCS in patients with a family history of chronic kidney disease (CKD) or eye disease.