A novel deletion mutation in RS1 gene caused X-linked juvenile retinoschisis in a Chinese family
A novel deletion mutation in RS1 gene caused X-linked juvenile retinoschisis in a Chinese family
复制标题
作者：
Huang, Y.;Mei, L.;Pan, Q.
目的 X 连锁青少年视网膜劈裂 (XLRS) 是青少年黄斑变性的主要原因，其特征是视网膜黄斑区出现轮辐图案和神经感觉视网膜分裂。本研究旨在找出中国XLRS家族的潜在遗传缺陷。方法先证者接受完整的眼科检查，包括眼底检查、眼底自发荧光和光学相干断层扫描。从先证者及其弟弟中提取的 DNA 进行了 RS1 基因突变的筛查。在所有可用的家庭成员和 200 名健康对照中检测到检测到的 RS1 突变。结果 在先证者中观察到视力下降、中央凹轮辐图案和视网膜裂孔。在先证者和他的弟弟身上发现了 RS1 基因中的一个新的移码突变 c.206-207delTG，导致蛋白截短（p.L69fs16X）。在任何未受影响的成员或健康对照中均未发现这种突变。先证者的母亲是该突变等位基因的半合子。结论我们在一个患有 XLRS 的中国家庭中发现了一种新的 RS1 致病突变。这一发现扩大了RS1的突变谱，并为XLRS的表型-基因型研究提供了证据。
Purpose X-linked juvenile retinoschisis (XLRS), a leading cause of juvenile macular degeneration, is characterized by a spoke-wheel pattern in the macular region of the retina and splitting of the neurosensory retina. This study aimed to identify the underlying genetic defect in a Chinese family with XLRS.Methods The proband underwent complete ophthalmic examinations, including fundus examination, fundus autofluorescence, and optical coherence tomography. DNA extracted from proband and his younger brother was screened for mutations in RS1 gene. The detected RS1 mutation was tested in all available family members and 200 healthy controls.Results Reduced visual acuity, spoke-wheel pattern at the fovea, and split retina were observed in the proband. A novel frameshift mutation c.206-207delTG in the RS1 gene, leading to a truncated protein (p.L69fs16X), was identified in the proband and his younger brother. This mutation was not found in any unaffected member or in the healthy controls. The mother of the proband was hemizygous for this mutant allele.Conclusions We identified a novel causative mutation of RS1 in a Chinese family with XLRS. This finding expands the mutation spectrum of RS1 and provides evidence for a phenotype-genotype study in XLRS.