PMID- 36249605
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20221019
IS  - 2168-8184 (Print)
IS  - 2168-8184 (Electronic)
IS  - 2168-8184 (Linking)
VI  - 14
IP  - 9
DP  - 2022 Sep
TI  - De Novo PAX2 Mutation With Associated Papillorenal Syndrome: A Case Report and 
      Literature Review of Penetrance and Expressivity.
PG  - e29026
LID - 10.7759/cureus.29026 [doi]
LID - e29026
AB  - 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.
CI  - Copyright (c) 2022, Ali et al.
FAU - Ali, Maryam
AU  - Ali M
AD  - Department of Medicine, Philadelphia College of Osteopathic Medicine - Georgia 
      Campus, Suwanee, USA.
FAU - Chang, Michael
AU  - Chang M
AD  - Department of Ophthalmology and Visual Sciences, West Virginia University Eye 
      Institute, Ruby Memorial Hospital, Morgantown, USA.
FAU - Leys, Monique
AU  - Leys M
AD  - Department of Ophthalmology and Visual Sciences, West Virginia University Eye 
      Institute, Ruby Memorial Hospital, Morgantown, USA.
LA  - eng
PT  - Case Reports
DEP - 20220911
PL  - United States
TA  - Cureus
JT  - Cureus
JID - 101596737
PMC - PMC9550200
OTO - NOTNLM
OT  - de-novo
OT  - no prior family history
OT  - nonsense mutation
OT  - optic disc
OT  - papillorenal syndrome
OT  - pax2
COIS- The authors have declared that no competing interests exist.
EDAT- 2022/10/18 06:00
MHDA- 2022/10/18 06:01
PMCR- 2022/09/11
CRDT- 2022/10/17 05:26
PHST- 2022/09/10 00:00 [accepted]
PHST- 2022/10/17 05:26 [entrez]
PHST- 2022/10/18 06:00 [pubmed]
PHST- 2022/10/18 06:01 [medline]
PHST- 2022/09/11 00:00 [pmc-release]
AID - 10.7759/cureus.29026 [doi]
PST - epublish
SO  - Cureus. 2022 Sep 11;14(9):e29026. doi: 10.7759/cureus.29026. eCollection 2022 
      Sep.