Dan Handong, Song Xiusheng, Li Jiazhang, Xing Yiqiao, Li Tuo
a Department of Ophthalmology , The Central Hospital of Enshi Autonomous Prefecture, Enshi Clinical College of Wuhan University , Enshi , China.
b Department of Ophthalmology Centre , Renmin Hospital of Wuhan University , Wuhan , China.
Ophthalmic Genet. 2017 May-Jun;38(3):206-210. doi: 10.1080/13816810.2016.1193876. Epub 2016 Jul 18.
Schubert-Bornschein congenital stationary night blindness (CSNB) is a rare retinal disorder that may lead to severe visual impairment in patients. The aim of this study was to detect mutations in the LRIT3, CABP4, and GPR179 genes in Chinese patients with Schubert-Bornschein CSNB.
A cohort of eight unrelated Chinese probands with Schubert-Bornschein CSNB was recruited for this study. Six of these probands were assessed in our previous study, in which we screened the NYX, CACNA1F, GRM6, and TRPM1 genes for mutations but identified none. The other two patients were newly recruited and had not been screened for mutations in these genes. Genomic DNA and clinical data were collected from the eight recruited families. Variants of the LRIT3, CABP4, and GPR179 genes were identified by Sanger sequencing. All of the identified variants were also assessed in 192 control individuals.
In this study, a novel compound heterozygous mutation, c.[1A>G]; [608G>T] (p.[0?]; p.[W203L]), was identified in the LRIT3 gene of a proband. These two mutations were not present in any of the 192 normal control individuals or in the other patients, and the missense mutation c.608G>T was predicted to be pathogenic. No mutations were identified in the CABP4 or GPR179 gene.
These results expand the mutational spectrum of LRIT3, thus potentially enriching our understanding of the molecular basis of complete CSNB. Additional genes that potentially contribute to incomplete CSNB remain to be identified in future studies.
舒伯特 - 博恩施泰因先天性静止性夜盲症（CSNB）是一种罕见的视网膜疾病，可能导致患者严重视力损害。本研究的目的是检测中国舒伯特 - 博恩施泰因CSNB患者LRIT3、CABP4和GPR179基因的突变情况。
招募了8名无亲缘关系的中国舒伯特 - 博恩施泰因CSNB先证者进行本研究。其中6名先证者在我们之前的研究中接受过评估，在该研究中我们筛查了NYX、CACNA1F、GRM6和TRPM1基因的突变，但未发现任何突变。另外两名患者是新招募的，尚未对这些基因进行突变筛查。从8个招募的家庭中收集了基因组DNA和临床数据。通过桑格测序鉴定LRIT3、CABP4和GPR179基因的变异。所有鉴定出的变异也在192名对照个体中进行了评估。
在本研究中，在先证者的LRIT3基因中鉴定出一种新的复合杂合突变，即c.[1A>G]; [608G>T]（p.[0?]; p.[W203L]）。这两个突变在192名正常对照个体或其他患者中均未出现，错义突变c.608G>T被预测为致病性突变。在CABP4或GPR179基因中未发现突变。
这些结果扩展了LRIT3的突变谱，从而可能丰富我们对完全性CSNB分子基础的理解。未来的研究仍有待确定可能导致不完全性CSNB的其他基因。
