title: A novel mutation in the XLRS1 gene in a Korean family with X-linked retinoschisis.
abstract: OBJECTIVE
  To report a novel missense mutation in the XLRS1 gene in a Korean family with X-linked retinoschisis.
  
  
  METHODS
  Observation case report of a family with a proband with X-linked retinoschisis underwent complete ophthalmologic examination. Genomic DNA was excluded from the family's blood and all exons of the XLRS1 gene were amplified by polymerase chain reaction and analyzed using a direct sequencing method.
  
  
  RESULTS
  A novel Leu103Phe missense mutation was identified.
  
  
  CONCLUSIONS
  A novel Leu103Phe mutation is an additional missense mutation which is responsible for the pathogenesis of X-linked retinoschisis.
authors.affiliation: Department of Ophthalmology, Institute of Vision Research, Yonsei University College of Medicine, Seoul, Korea. hjkoh@yumc.yonsei.ac.kr
authors.forename: Hyoung Jun
authors.initials: HJ
authors.lastname: Koh
authors.forename: Nam Soo
authors.initials: NS
authors.lastname: Jwa
authors.forename: Sung Soo
authors.initials: SS
authors.lastname: Kim
authors.forename: Sung Chul
authors.initials: SC
authors.lastname: Lee
authors.forename: Oh Woong
authors.initials: OW
authors.lastname: Kwon
mesh_terms: D002648:Child; D004247:DNA / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D006801:Humans; D007723:Korea; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D020419:Photoreceptor Cells, Vertebrate; D041441:Retinoschisis / Q000235:genetics*
chemical_list: D005136:Eye Proteins; C108726:RS1 protein, human; D004247:DNA