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

Genes - 25 Aug 2020

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

Abstract excerpt

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...

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Identifiers

PMID: 32854301
DOI: 10.3390/genes11090992
PMCID: PMC7564609

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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