Identification of Novel Copy Number Variations of VCAN Gene in Three Chinese Families with Wagner Disease.
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ABSTRACT:
SUBMITTER: Li S
PROVIDER: S-EPMC7564609 | biostudies-literature | 2020 Aug
REPOSITORIES: biostudies-literature
Publications
Identification of Novel Copy Number Variations of VCAN Gene in Three Chinese Families with Wagner Disease.
Li Songshan S Li Mengke M Sun Limei L Zhao Xiujuan X Zhang Ting T Huang Li L Huang Sijian S Chen Chonglin C Wang Zhirong Z Ding Xiaoyan X
Genes 20200825 9
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 variati ...[more]
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