在中国的一个大样本队列中，家族性渗出性玻璃体视网膜病变先证者及其受影响家族成员的临床和遗传学特征。
Clinical and genetical features of probands and affected family members with familial exudative vitreoretinopathy in a large Chinese cohort.
机构信息
Ophthalmology, Shanghai Jiaotong University School of Medicine Xinhua Hospital, Shanghai, China.
Ophthalmology, Shanghai Jiaotong University School of Medicine Xinhua Hospital, Shanghai, China
出版信息
Br J Ophthalmol. 2021 Jan;105(1):83-86. doi: 10.1136/bjophthalmol-2019-315598. Epub 2020 Apr 1.
AIMS
To explore the clinical and genetical features of families with strictly confirmed familial exudative vitreoretinopathy (FEVR) in a large Chinese cohort.
METHODS
A retrospective chart review study was conducted on the FEVR families diagnosed by both angiography and targeted next-generation sequencing in six FEVR known genes (, , , , ) in the probands and at least one first-degree family member. Variation in expressivity and severity was evaluated in different gene groups.
RESULTS
105 FEVR families (223 FEVR affected subjects with 434 eyes) met the inclusion criteria. There were 105 probands with mean age of 3.8 years old and 118 affected family members of 32.7 years old averagely. Mutations in were most prevalent (33.33%), followed by (29.52%), (22.86%), (5.71%), (1.9%) and (0.95%). 81% of the probands were classified as stage 4 or worse which most prevalently contributed to mutations. All of the three affected family members with stage 4 or worse carried variants. More than half (51.43%) of the probands in group showed asymmetry. Unilateral FEVR was detected in 11 (10.5%) families consisting of six probands and six affected relatives, and mutations accounted for 63.64% of all the cases with variant (c.1282_1285del, p. D428fs) identified in three families.
CONCLUSIONS
Genotype-phenotype correlation in FEVR was complex with family dependent. Mutations in might initiate the most diverse and asymmetric phenotypes.
目的
在中国大样本队列中，通过血管造影和靶向下一代测序对明确诊断为家族性渗出性玻璃体视网膜病变（FEVR）的家系进行临床和遗传学特征分析。
方法
对 6 个已知 FEVR 基因（、、、、）中通过血管造影和靶向下一代测序在先证者及其至少一个一级亲属中确诊的 FEVR 家系进行回顾性图表审查研究。评估不同基因组中表达和严重程度的变异性。
结果
符合纳入标准的 FEVR 家系共 105 个（223 名 FEVR 受累患者，共 434 只眼）。105 名先证者的平均年龄为 3.8 岁，118 名受累一级亲属的平均年龄为 32.7 岁。最常见的突变是（33.33%），其次是（29.52%）、（22.86%）、（5.71%）、（1.9%）和（0.95%）。81%的先证者被分类为 4 期或更严重，这主要与突变有关。所有 3 名 4 期或更严重的受累家族成员均携带变异。组中超过一半（51.43%）的先证者表现出不对称性。11 个（10.5%）家系中有 6 名先证者和 6 名受累亲属表现为单侧 FEVR，其中 63.64%的病例携带变异（c.1282_1285del，p.D428fs），在 3 个家系中发现了变异。
结论
FEVR 的基因型-表型相关性复杂，具有家族依赖性。突变可能引发最具多样性和不对称性的表型。
Zotero 插件