Mutation screening of the LRIT3, CABP4, and GPR179 genes in Chinese patients with Schubert-Bornschein congenital stationary night blindness
| Autor: | Tuo Li, Yiqiao Xing, Jia-Zhang Li, Xiu-sheng Song, Han-Dong Dan |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Adult Male Pathology medicine.medical_specialty Pediatrics China Visual acuity Retinal Disorder Genotype DNA Mutational Analysis Visual Acuity Biology Receptors G-Protein-Coupled Cohort Studies 03 medical and health sciences 0302 clinical medicine Severe visual impairment Asian People Night Blindness medicine Mutation screening Electroretinography Myopia Humans In patient Amino Acid Sequence Genetic Testing Child Genetics (clinical) Genetic testing Congenital stationary night blindness medicine.diagnostic_test Calcium-Binding Proteins Membrane Proteins Eye Diseases Hereditary Genetic Diseases X-Linked Pedigree Ophthalmology 030104 developmental biology Pediatrics Perinatology and Child Health Mutation 030221 ophthalmology & optometry Visual Field Tests Female medicine.symptom Visual Fields Photoreceptor Cells Vertebrate |
| Zdroj: | Ophthalmic genetics. 38(3) |
| ISSN: | 1744-5094 |
| Popis: | 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.[1AG]; [608GT] (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.608GT 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. |
| Databáze: | OpenAIRE |
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