A wide spectrum of phenotypes in a family with renal coloboma syndrome caused by a PAX2 mutation.
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.
Renal Unit , Freeman Hospital, Newcastle upon Tyne NHS Hospitals Foundation Trust , Newcastle Upon Tyne , UK.
Jennifer
J
Adam
Opthalmology Department, Royal Victoria Infirmary , Newcastle upon Tyne NHS Hospitals Foundation Trust , Newcastle Upon Tyne , UK.
Andrew C
AC
Browning
Opthalmology Department, Royal Victoria Infirmary , Newcastle upon Tyne NHS Hospitals Foundation Trust , Newcastle Upon Tyne , UK.
Daniela
D
Vaideanu
APHP, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte, Paris , France.
Laurence
L
Heidet
Institute of Genetic Medicine , Newcastle University , Newcastle Upon Tyne , UK.
Judith A
JA
Goodship
Renal Unit, Freeman Hospital, Newcastle upon Tyne NHS Hospitals Foundation Trust, Newcastle Upon Tyne, UK; Institute of Genetic Medicine, Newcastle University, Newcastle Upon Tyne, UK.
John A
JA
Sayer
end-stage renal disease; morning glory anomaly; pax2 mutation; renal coloboma syndrome