De Novo PAX2 Mutation With Associated Papillorenal Syndrome: A Case Report and Literature Review of Penetrance and Expressivity

Maryam Ali; Michael Chang; Monique Leys

doi:10.7759/cureus.29026

De Novo PAX2 Mutation With Associated Papillorenal Syndrome: A Case Report and Literature Review of Penetrance and Expressivity

Cureus. 2022 Sep 11;14(9):e29026. doi: 10.7759/cureus.29026. eCollection 2022 Sep.

Authors

Maryam Ali¹, Michael Chang², Monique Leys²

Affiliations

¹ Department of Medicine, Philadelphia College of Osteopathic Medicine - Georgia Campus, Suwanee, USA.
² Department of Ophthalmology and Visual Sciences, West Virginia University Eye Institute, Ruby Memorial Hospital, Morgantown, USA.

Abstract

We report the ocular findings of a Caucasian female with papillorenal syndrome (PAPRS) from a de novo PAX2 mutation. She presented to our clinic with early-onset end-stage renal disease. Ophthalmologic exam revealed bilateral band keratopathy, abnormal optic disc configuration, and Elschnig spots, with preserved visual acuity. Genomic sequencing revealed a heterozygous nonsense PAX2 mutation (C > G p. (Tyr73*) at position 219 in exon 3) associated with PAPRS. Parents of the proband did not display phenotypic features of PAPRS and were confirmed to be without the PAX2 mutation.

Keywords: de-novo; no prior family history; nonsense mutation; optic disc; papillorenal syndrome; pax2.

Publication types

Case Reports