PMID- 38028614
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20231201
IS  - 1664-8021 (Print)
IS  - 1664-8021 (Electronic)
IS  - 1664-8021 (Linking)
VI  - 14
DP  - 2023
TI  - Case report: A frameshift mutation in CLCN2-related leukoencephalopathy and 
      retinopathy.
PG  - 1278961
LID - 10.3389/fgene.2023.1278961 [doi]
LID - 1278961
AB  - Background: Leukoencephalopathy and visual impairment have been linked to 
      loss-of-function mutations in the CLCN2 gene (MIM #600570). However, the ocular 
      features caused by the CLCN2 mutations remain poorly understood and seldom 
      reported. This study aims to present a novel mutation and characterize the ocular 
      phenotype in a Chinese female diagnosed with CLCN2-related leukoencephalopathy 
      (CC2L), also known as leukoencephalopathy with ataxia (LKPAT; MIM #615651). Case 
      presentation: A 20-year-old Chinese female presented with bilateral blurred 
      vision persisting for 2 years, which had worsened over the past 6 months. 
      Ophthalmologic examination revealed bilateral post-capsular cataracts, macular 
      retinal atrophy, and peripheral retinal pigmentation. Swept-source optical 
      coherence tomography (SS-OCT) showed bilateral choroidal capillary atrophy, loss 
      of the outer retinal layer, and a novel noteworthy sign of vacuole-like 
      vitreoretinopathy. Cranial magnetic resonance imaging confirmed 
      leukoencephalopathy. Genetic testing identified a novel homozygous pathogenic 
      c.1382_1386del (p.P461Lfs*13) mutation in exon 13 of the CLCN2 gene. Conclusion: 
      This case report expands the knowledge of CLCN2 mutations and their associated 
      ocular manifestations in patients with CC2L. The identified ophthalmic features 
      may serve as crucial indicators for early diagnosis in individuals with CC2L, 
      especially in the absence of evident neurological symptoms.
CI  - Copyright (c) 2023 Cheng, Liu, Sun and Ding.
FAU - Cheng, Yizhe
AU  - Cheng Y
AD  - State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen 
      University, Guangzhou, China.
FAU - Liu, Xinyu
AU  - Liu X
AD  - State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen 
      University, Guangzhou, China.
FAU - Sun, Limei
AU  - Sun L
AD  - State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen 
      University, Guangzhou, China.
FAU - Ding, Xiaoyan
AU  - Ding X
AD  - State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen 
      University, Guangzhou, China.
LA  - eng
PT  - Case Reports
DEP - 20231109
PL  - Switzerland
TA  - Front Genet
JT  - Frontiers in genetics
JID - 101560621
PMC - PMC10665509
OTO - NOTNLM
OT  - CLCN2 gene
OT  - leukoencephalopathies
OT  - magnetic resonance imaging
OT  - optical coherence tomography
OT  - retinal degeneration
COIS- The authors declare that the research was conducted in the absence of any 
      commercial or financial relationships that could be construed as a potential 
      conflict of interest.
EDAT- 2023/11/29 18:42
MHDA- 2023/11/29 18:43
PMCR- 2023/11/09
CRDT- 2023/11/29 17:15
PHST- 2023/09/05 00:00 [received]
PHST- 2023/10/26 00:00 [accepted]
PHST- 2023/11/29 18:43 [medline]
PHST- 2023/11/29 18:42 [pubmed]
PHST- 2023/11/29 17:15 [entrez]
PHST- 2023/11/09 00:00 [pmc-release]
AID - 1278961 [pii]
AID - 10.3389/fgene.2023.1278961 [doi]
PST - epublish
SO  - Front Genet. 2023 Nov 9;14:1278961. doi: 10.3389/fgene.2023.1278961. eCollection 
      2023.