State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.
Zhuhai Women and Children's Hospital, Zhuhai, China.
Mol Vis. 2022 Mar 25;28:29-38. eCollection 2022.
Familial exudative vitreoretinopathy (FEVR) and Norrie disease (ND) are genetic disorders that can be caused by mutations in the gene and affect retinal vasculature growth and development. This study aimed to describe the copy number variations (CNVs) in the gene in Chinese FEVR families and the associated phenotypes.
This study recruited 651 FEVR families. SeqCNV was used to analyze the CNVs in the families without mutations in known FEVR-associated genes. Multiplex ligation-dependent probe amplification and semiquantitative multiplex PCR were performed to verify the CNVs. The probands and family members underwent complete ocular examinations.
CNVs were identified in four patients from three unrelated families, accounting for 15% of the patients with mutations and 0.46% of the entire FEVR cohort. Exon 2 deletions were detected in two families, and whole gene deletion was identified in one family. The affected individuals were born blind with total retinal detachment.
The findings confirm that CNVs are a common mutation type. The CNV-associated phenotype is congenital blindness with total retinal detachment. Antenatal genetic analyses and fetal ultrasound can facilitate early diagnosis and interventions in patients with mutations.
家族渗出性玻璃体视网膜病变（FEVR）和 Norrie 病（ND）是由 基因的突变引起的遗传性疾病，会影响视网膜血管的生长和发育。本研究旨在描述中国 FEVR 家系中 基因的拷贝数变异（CNVs）及其相关表型。
本研究招募了 651 个 FEVR 家系。对无已知 FEVR 相关基因突变的家系进行 SeqCNV 分析，以检测 CNVs。采用多重连接依赖性探针扩增和半定量多重 PCR 对 基因的 CNVs 进行验证。对先证者及其家系成员进行全面的眼部检查。
在三个无血缘关系的家系中的 4 位患者中发现了 CNVs，占 基因突变患者的 15%，占整个 FEVR 队列的 0.46%。两个家系检测到外显子 2 缺失，一个家系检测到全基因缺失。受影响的个体出生时即为盲，且伴有全视网膜脱离。
这些发现证实 CNVs 是一种常见的 基因突变类型。CNV 相关表型为先天性失明伴全视网膜脱离。产前基因分析和胎儿超声检查有助于对 基因突变患者进行早期诊断和干预。
