Liu Miaomiao, Luo Jia, Feng Huazhang, Li Jing, Zhang Xiang, Zhao Peiquan, Fei Ping
Department of Ophthalmology, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Front Med (Lausanne). 2022 Oct 24;9:976520. doi: 10.3389/fmed.2022.976520. eCollection 2022.
Familial exudative vitreoretinopathy (FEVR) is an important cause of childhood blindness and is clinically characterized by phenotypic heterogeneity. FEVR patients harboring the same genetic mutation vary widely in disease severity. The purpose of this study was to explore non-genetic factors that regulate FEVR phenotypic heterogeneity. We detected methylation levels of 21 CpG sites located at the exon 1 region of 11 probands, 12 asymptomatic/paucisymptomatic carriers and 11 non-carriers from 10 unrelated -associated FEVR families using bisulfite amplicon sequencing (BSAS). Our results showed reduced methylation level of exon 1 in probands, suggesting that exon 1 methylation level may be negatively linked with FEVR disease severity. It provided a new research direction for follow-up research, helping us better understand the complexity of the FEVR-causing mechanism.
家族性渗出性玻璃体视网膜病变（FEVR）是儿童失明的重要原因，其临床特征为表型异质性。携带相同基因突变的FEVR患者在疾病严重程度上差异很大。本研究的目的是探索调节FEVR表型异质性的非遗传因素。我们使用亚硫酸氢盐扩增子测序（BSAS）检测了来自10个不相关的FEVR相关家族的11名先证者、12名无症状/症状轻微携带者和11名非携带者的11个基因外显子1区域中21个CpG位点的甲基化水平。我们的结果显示先证者中外显子1的甲基化水平降低，这表明外显子1甲基化水平可能与FEVR疾病严重程度呈负相关。它为后续研究提供了一个新的研究方向，有助于我们更好地理解FEVR致病机制的复杂性。
