Novel nonsense and splice site mutations in CRB1 gene in two Japanese patients with early-onset retinal dystrophy Documenta Ophthalmologica.
Novel nonsense and splice site mutations in CRB1 gene in two Japanese patients with early-onset retinal dystrophy Documenta Ophthalmologica.
复制标题
两名日本早发性视网膜营养不良患者的 CRB1 基因中的新无义突变和剪接位点突变（眼科文献文献）。
DOI：
10.1007/s10633-014-9464-8
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发表时间：
2015
影响因子：
1.4
通讯作者：
Iwata T.
中科院分区：
文献类型：
--
作者：
Kuniyoshi K;Ikeo K;Sakuramoto H;Furuno M;Yoshitake K;Hatsukawa Y;Nakao A;Kusaka S;Shimomura Y;Iwata T.
目的报道2例早发性视网膜营养不良（EORD）患者CRB1基因的新突变以及EORD的纵向临床病程。对两名患者进行标准眼科检查，包括视野检查、视网膜电图和光学相干断层扫描。使用下一代序列（NGS）technology.ResultsPatient1指出，有内斜视和远视在3岁的患者和他们的无症状的父母的整个外显子组进行了分析。他的十进制最佳矫正视力（BCVA）在6岁时为0.6 OD和0.3 OS，视网膜色素上皮（RPE）色素脱失。19岁时，他的中央视力仍然保留，但视网膜中存在许多色素颗粒。NGS分析显示CRB1基因存在p.R632X无义突变和c.652 + 1_652 + 4delGTAA剪接位点突变。他在6岁时的十进制BCVA为0.3 OD和0.4 OS，具有脱色的RPE。视网膜色素沉着程度增加，但他的BCVA良好，直到14岁。NGS分析发现CRB1基因c.652 + 1_652 + 4delGTAA和c.652 + 1_652 + 2insT剪接位点突变。他们慢慢地进步，直到生命的第二个十年。
PurposeTo report novel mutations in theCRB1gene in two patients with early-onset retinal dystrophy (EORD) and the longitudinal clinical course of EORD.Patients and methodsThe patients were two unrelated Japanese children. Standard ophthalmic examinations including perimetry, electroretinography, and optical coherence tomography were performed on both patients. Whole exomes of the patients and their nonsymptomatic parents were analyzed using a next-generation sequence (NGS) technique.ResultsPatient 1was noted to have esotropia and hyperopia at age 3. His decimal best-corrected visual acuity (BCVA) was 0.6 OD and 0.3 OS at age 6 with de-pigmentation of the retinal pigment epithelium (RPE). At age 19, his central vision was still preserved; however, numerous pigment granules were present in the retina. NGS analysis revealed a p.R632X nonsense and c.652 + 1_652 + 4delGTAA splice site mutations in theCRB1gene.Patient 2was noted to have hyperopia at age 3. His decimal BCVA at age 6 was 0.3 OD and 0.4 OS with de-pigmented RPE. The degree of retinal pigmentation was increased but his BCVA was good until the age of 14 years. NGS analysis revealed c.652 + 1_652 + 4delGTAA and c.652 + 1_652 + 2insT splice site mutations in theCRB1gene.ConclusionsThe phenotypes of these novel mutations for EORD are typical ofCRB1-associated EORD (LCA8). They were slowly progressive until the second decade of life.