Mutation screening of the LRIT3, CABP4, and GPR179 genes in Chinese patients with Schubert-Bornschein congenital stationary night blindness

作者：Dan, Handong; Song, Xiusheng; Li, Jiazhang; Xing, Yiqiao; Li, Tuo^*

来源：Ophthalmic Genetics, 2017, 38(3): 206-210.

DOI：10.1080/13816810.2016.1193876

• CABP4
• GPR179
• LRIT3
• mutation
• Schubert-Bornschein congenital stationary night blindness

Background: 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.
Materials and methods: 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.
Results: 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.
Conclusions: 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.

• 出版日期2017
• 单位恩施土家族苗族自治州中心医院; 武汉大学