PMID- 33997468
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220423
IS  - 2451-9936 (Electronic)
IS  - 2451-9936 (Linking)
VI  - 22
DP  - 2021 Jun
TI  - A novel PAX2 heterozygous mutation in a family with Papillorenal syndrome: A case 
      report and review of the literature.
PG  - 101091
LID - 10.1016/j.ajoc.2021.101091 [doi]
LID - 101091
AB  - 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.
CI  - (c) 2021 The Authors.
FAU - Liu, Shixue
AU  - Liu S
AD  - Department of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai, 
      China.
AD  - Shanghai Key Laboratory of Visual Impairment and Restoration, Fudan University, 
      Shanghai, China.
AD  - Key Laboratory of Myopia of State Health Ministry, Fudan University, Shanghai, 
      China.
FAU - Zhang, Peijun
AU  - Zhang P
AD  - Department of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai, 
      China.
AD  - Shanghai Key Laboratory of Visual Impairment and Restoration, Fudan University, 
      Shanghai, China.
AD  - Key Laboratory of Myopia of State Health Ministry, Fudan University, Shanghai, 
      China.
FAU - Wu, Jihong
AU  - Wu J
AD  - Department of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai, 
      China.
AD  - Shanghai Key Laboratory of Visual Impairment and Restoration, Fudan University, 
      Shanghai, China.
AD  - Key Laboratory of Myopia of State Health Ministry, Fudan University, Shanghai, 
      China.
FAU - Chang, Qing
AU  - Chang Q
AD  - Department of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai, 
      China.
AD  - Shanghai Key Laboratory of Visual Impairment and Restoration, Fudan University, 
      Shanghai, China.
AD  - Key Laboratory of Myopia of State Health Ministry, Fudan University, Shanghai, 
      China.
LA  - eng
PT  - Case Reports
DEP - 20210422
PL  - United States
TA  - Am J Ophthalmol Case Rep
JT  - American journal of ophthalmology case reports
JID - 101679941
PMC - PMC8102412
OTO - NOTNLM
OT  - Mutation
OT  - Ophthalmic manifestations
OT  - Optic disc
OT  - PAX2 gene
OT  - Papillorenal syndrome
COIS- No conflict of interest exists.
EDAT- 2021/05/18 06:00
MHDA- 2021/05/18 06:01
PMCR- 2021/04/22
CRDT- 2021/05/17 06:22
PHST- 2020/09/04 00:00 [received]
PHST- 2021/03/22 00:00 [revised]
PHST- 2021/04/12 00:00 [accepted]
PHST- 2021/05/17 06:22 [entrez]
PHST- 2021/05/18 06:00 [pubmed]
PHST- 2021/05/18 06:01 [medline]
PHST- 2021/04/22 00:00 [pmc-release]
AID - S2451-9936(21)00100-6 [pii]
AID - 101091 [pii]
AID - 10.1016/j.ajoc.2021.101091 [doi]
PST - epublish
SO  - Am J Ophthalmol Case Rep. 2021 Apr 22;22:101091. doi: 10.1016/j.ajoc.2021.101091. 
      eCollection 2021 Jun.