A novel PAX2 heterozygous mutation in a family with Papillorenal syndrome: A case report and review of the literature

Shixue Liu; Peijun Zhang; Jihong Wu; Qing Chang

doi:10.1016/j.ajoc.2021.101091

A novel PAX2 heterozygous mutation in a family with Papillorenal syndrome: A case report and review of the literature

Am J Ophthalmol Case Rep. 2021 Apr 22:22:101091. doi: 10.1016/j.ajoc.2021.101091. eCollection 2021 Jun.

Authors

Shixue Liu^{1

2

3}, Peijun Zhang^{1

2

3}, Jihong Wu^{1

2

3}, Qing Chang^{1

2

3}

Affiliations

¹ Department of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai, China.
² Shanghai Key Laboratory of Visual Impairment and Restoration, Fudan University, Shanghai, China.
³ Key Laboratory of Myopia of State Health Ministry, Fudan University, Shanghai, China.

Abstract

Purpose: Papillorenal syndrome (PAPRS) is a rare inherited disorder often involves abnormalities of eye and kidney. Paired box 2 (PAX2) gene, which is widely expressed in the development of the organs including kidney, ureter, eye, ear, and central nervous system has been considered an underlying cause of PAPRS. The present work aims to further our understanding of PAX2 gene and PAPRS by reporting a family with PAPRS associated with a novel PAX2 mutation and describing ocular manifestation of PAX2 mutation in previous literatures.

Observation: We herein present a family with PAPRS presented with typical congenital optic disc defects and mild renal dysplasia. Through screening of candidate genes based on the next-generation sequencing, the heterozygous PAX2 mutation c.175C > T (p. Arg59Trp) was identified which had never been reported.

Conclusions: The study expands the genetic and clinic spectrum of PAPRS. Further review of detailed ocular manifestation and genotypes of PAX2 mutation in previous study improves the recognition of the ocular phenotypes' spectrum, assists in the identification of PAPRS. Moreover, this study reveals that PAPRS is a systemic disorder with heterogeneous diverse phenotypes, and shows the importance of gene panel sequencing in the diagnosis of PAPRS which could achieve high diagnostic rates.

Keywords: Mutation; Ophthalmic manifestations; Optic disc; PAX2 gene; Papillorenal syndrome.

Publication types

Case Reports