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

ABSTRACT

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.

KEYWORDS:

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

Acknowledgments

The authors thank all of the patients and controls for their participation.

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Funding

This study was supported by the National Natural Science Foundation (81360154) and by an open project of the State Key Laboratory of Ophthalmology (2013KF04).

Supplemental data

Supplemental data for this article can be accessed on the publisher’s website at http://dx.doi.org/10.1080/13816810.2016.1193876.

Additional information

Funding

This study was supported by the National Natural Science Foundation (81360154) and by an open project of the State Key Laboratory of Ophthalmology (2013KF04).