title: Mutation screening of the LRIT3, CABP4, and GPR179 genes in Chinese patients with Schubert-Bornschein congenital stationary night blindness.
abstract: 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.
authors.affiliation: a Department of Ophthalmology , The Central Hospital of Enshi Autonomous Prefecture, Enshi Clinical College of Wuhan University , Enshi , China.
authors.forename: Handong
authors.initials: H
authors.lastname: Dan
authors.affiliation: 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.
authors.forename: Xiusheng
authors.initials: X
authors.lastname: Song
authors.affiliation: a Department of Ophthalmology , The Central Hospital of Enshi Autonomous Prefecture, Enshi Clinical College of Wuhan University , Enshi , China.
authors.forename: Jiazhang
authors.initials: J
authors.lastname: Li
authors.affiliation: b Department of Ophthalmology Centre , Renmin Hospital of Wuhan University , Wuhan , China.
authors.forename: Yiqiao
authors.initials: Y
authors.lastname: Xing
authors.affiliation: 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.
authors.forename: Tuo
authors.initials: T
authors.lastname: Li
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics; D002135:Calcium-Binding Proteins / Q000235:genetics*; D002648:Child; D002681:China / Q000453:epidemiology; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D004596:Electroretinography; D015785:Eye Diseases, Hereditary / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009216:Myopia / Q000175:diagnosis / Q000235:genetics*; D009755:Night Blindness / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D020419:Photoreceptor Cells, Vertebrate / Q000502:physiology; D043562:Receptors, G-Protein-Coupled / Q000235:genetics*; D014792:Visual Acuity / Q000502:physiology; D058609:Visual Field Tests; D014794:Visual Fields / Q000502:physiology
chemical_list: C514441:CABP4 protein, human; D002135:Calcium-Binding Proteins; C578793:LRIT3 protein, human; D008565:Membrane Proteins; D043562:Receptors, G-Protein-Coupled
keywords: CABP4; GPR179; LRIT3; Schubert-Bornschein congenital stationary night blindness; mutation