Evidence map›Paper›PMID 32854301›Full record

ArticleGenes2020

Identification of Novel Copy Number Variations of VCAN Gene in Three Chinese Families with Wagner Disease.

Songshan Li, Mengke Li, Limei Sun, Xiujuan Zhao, Ting Zhang, Li Huang, Sijian Huang, Chonglin Chen, Zhirong Wang, Xiaoyan Ding

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.3field-weighted citation impact, top 37% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 7 citations in OpenAlex.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors at 1 institution in 1 country.

Songshan LiState Key Laboratory of Ophthalmology, Pediatric Department, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510000, China.
Mengke LiState Key Laboratory of Ophthalmology, Pediatric Department, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510000, China.
Limei SunState Key Laboratory of Ophthalmology, Pediatric Department, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510000, China.
Xiujuan ZhaoState Key Laboratory of Ophthalmology, Pediatric Department, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510000, China.
Ting ZhangState Key Laboratory of Ophthalmology, Pediatric Department, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510000, China.
Li HuangState Key Laboratory of Ophthalmology, Pediatric Department, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510000, China.
Sijian HuangState Key Laboratory of Ophthalmology, Pediatric Department, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510000, China.
Chonglin ChenState Key Laboratory of Ophthalmology, Pediatric Department, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510000, China.
Zhirong WangState Key Laboratory of Ophthalmology, Pediatric Department, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510000, China.
Xiaoyan DingState Key Laboratory of Ophthalmology, Pediatric Department, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510000, China.ORCID 0000-0003-4936-3315
Sun Yat-sen University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The VCAN/versican gene encodes an important component of the extracellular matrix, the chondroitin sulfate proteoglycan 2 (CSPG2/versican). Heterozygous variants targeting exon 8 of VCAN have been shown to cause Wagner disease, a rare autosomal dominant non-syndromic vitreoretinopathy that induces retinal detachment, cataracts and permanent visual loss. In this study, we report on six patients from three unrelated families with Wagner disease in whom we identified three novel copy number variations of VCAN. Quantitative real-time polymerase chain reaction analysis identified deletions, including one exon-intron boundary of exon 8 or both exons 8 and 9, causing the haploinsufficiency of VCAN mRNAs.

Indexed as

AdultAsian PeopleChildChild, PreschoolDNA Copy Number VariationsExonsFemaleHeterozygoteHumansIntronsMalePedigreePhenotypeRetinal DegenerationRNA, MessengerVersicansRNA, MessengerVCAN protein, humanVersicansCNVscopy number variationsVCANversicanWagner disease

Identifiers

PMID32854301
PMCPMC7564609
OpenAlexW3080291166

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.