New truncation mutation of the NR2E3 gene in a Japanese patient with enhanced S-cone syndrome.
New truncation mutation of the NR2E3 gene in a Japanese patient with enhanced S-cone syndrome.
复制标题
一名患有增强型 S 锥综合征的日本患者的 NR2E3 基因出现新的截短突变。
DOI：
10.1007/s10384-016-0470-0
复制
发表时间：
2016
期刊：
影响因子：
2.4
通讯作者：
Shimomura Y.
中科院分区：
文献类型：
--
作者：
Kuniyoshi K;Hayashi T;Sakuramoto H;Mishima H;Tsuneoka H;Tsunoda K;Iwata T;Shimomura Y.
目的增强型S锥综合征（ESCS）是一种罕见的遗传性视网膜变性，其特征是短波长敏感锥（S锥）功能增强。这种疾病的纵向临床过程很少报道，ESCS的遗传方面在日本人群中还没有得到很好的研究。在这份报告中，我们提出了我们的临床和遗传学研究结果为2例ESCS.Patients和methodsThe患者是2无关的日本男性。标准的眼科检查和突变筛查theNR2E3 gene performed.ResultsPatient 1是一个36岁的男子，他的临床表现是典型的ESCS。他的十进制最佳矫正视力（BCVA）是1.0 OD和0.5 OS后，白内障切除术。遗传学研究发现了一个纯合截短移码，p.I307LfsX33突变。第二个病人是一个11岁的男孩，当他第一次被我们检查时。除了左眼的葡萄膜炎外，他的临床表现是典型的ESCS。他在39岁时的十进制BCVA在每只眼睛中保持在1.5，尽管视网膜变性和视野损伤在随访期间有所进展。结论NR2E3基因移码突变p.I307LfsX33是ESCS的一个新的致病突变。患者2的临床观察结果是有史以来报告的最长时间。这种突变引起的视网膜变性是缓慢进行的，这些患者在维持中央凹结构的情况下保持良好的视力，直到三十多岁。
PurposeThe enhanced S-cone syndrome (ESCS) is a rare hereditary retinal degeneration that has enhanced short wavelength-sensitive cone (S-cone) functions. The longitudinal clinical course of this disease has been rarely reported, and the genetic aspects of ESCS have not been well investigated in the Japanese population. In this report, we present our clinical and genetic findings for 2 patients with ESCS.Patients and methodsThe patients were 2 unrelated Japanese men. Standard ophthalmic examinations and mutation screening for theNR2E3gene were performed.ResultsPatient 1 was a 36-year-old man, and his clinical findings were typical of ESCS. His decimal best-corrected visual acuity (BCVA) was 1.0 OD and 0.5 OS after removal of cataracts. Genetic investigations revealed a homozygous truncation frameshift, the p.I307LfsX33 mutation. Patient 2 was an 11-year-old boy when he was first examined by us. His clinical findings were typical of ESCS except for uveitis in the left eye. His decimal BCVA at the age of 39 years was maintained at 1.5 in each eye, although the retinal degeneration and visual field impairments had progressed during the follow-up period. The genetic investigations revealed homozygous mutations of p.R104Q in theNR2E3gene.ConclusionsThe frameshift mutation, p.I307LfsX33, in theNR2E3gene is a new causative mutation for ESCS. The clinical observations for patient 2 are the longest ever reported. The retinal degeneration caused by this mutation is slowly progressive, and these patients maintained good vision with maintenance of the foveal structure until their late thirties.