title: Two novel point mutations of the XLRS1 gene in patients with X-linked juvenile retinoschisis.
abstract: OBJECTIVE
  To report two novel point mutations of the XLRS1 gene in two Japanese patients with X-linked juvenile retinoschisis.
  
  
  METHODS
  Observational case reports.
  
  
  METHODS
  The exons, including the flanking introns of XLRS1, were amplified by polymerase chain reaction and analyzed by direct sequencing.
  
  
  RESULTS
  One novel splice donor site mutation (IVS2 + 1g to a) and one missense mutation of exon 6 (Ala211Thr) were found.
  
  
  CONCLUSIONS
  Genetic findings identifying mutations in the XLRS1 gene will lead to earlier and more accurate diagnosis of X-linked juvenile retinoschisis.
authors.affiliation: Department of Ophthalmology and Visual Science, Osaka University Graduate School of Medicine, Japan.
authors.forename: Yumiko
authors.initials: Y
authors.lastname: Inoue
authors.forename: Shuji
authors.initials: S
authors.lastname: Yamamoto
authors.forename: Tomoyuki
authors.initials: T
authors.lastname: Inoue
authors.forename: Takashi
authors.initials: T
authors.lastname: Fujikado
authors.forename: Shunji
authors.initials: S
authors.lastname: Kusaka
authors.forename: Nobuyuki
authors.initials: N
authors.lastname: Ohguro
authors.forename: Masahito
authors.initials: M
authors.lastname: Ohji
authors.forename: Yasuo
authors.initials: Y
authors.lastname: Tano
mesh_terms: D001483:Base Sequence / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005136:Eye Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D041441:Retinoschisis / Q000235:genetics* / Q000473:pathology
chemical_list: D005136:Eye Proteins; C108726:RS1 protein, human