Related Experiment Video For Mutation
Updated: Jan 4, 2026
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
A new mutation in the PAX2 gene in a Papillorenal Syndrome patient
Rahul Rachwani Anil1, Carlos Rocha-de-Lossada1, Carlos Hernando Ayala1
1Hospital Regional de Málaga-Hospital Civil, Plaza Del Hospital Civil s/n, Málaga, Málaga, Spain.
Purpose:
To present a new mutation in a patient with Papillorenal Syndrome (PAPRS).
Observations:
PAPRS is an autosomal dominant disease that involves ocular and renal abnormalities. We present a patient with PAPRS with a genetically diagnosed PAX2 and new pathogenic mutation. A complete ophthalmological, neurological, nephrological and Ears-Nose-Throat (ENT) examination were undertaken. The patient suffered from Focal Segmental Glomerulosclerosis (FSGS) and some typical ophthalmological signs of PAPRS, including optic nerve coloboma and optic disc pit (ODP) maculopathy associated with an abnormal retinal vessel distribution and numerous cilioretinal arteries in the right eye. The left eye showed similar vessel abnormalities although the optic disc had a normal morphology.
Conclusions:
A new mutation in the PAX2 gene was identified in a patient with ocular and renal abnormalities.
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