title: [Detection and prenatal diagnosis for RS1 gene mutations in two Chinese families with X-linked juvenile retinoschisis].
abstract: OBJECTIVE
  To identify potential mutations of retinoschisis 1 (RS1) gene responsible for X-linked retinoschisis (XLRS) in two Chinese families.
  
  
  METHODS
  The 6 exons and flanking intronic regions were analyzed with PCR and direct sequencing.
  
  
  RESULTS
  Two RS1 mutations were identified in the two families, which included 1 frameshift mutation (c.573delG, p.Pro192fs) and 1 missense mutation (c.626G>A, p.Arg209His).
  
  
  CONCLUSIONS
  Two RS1 mutations have been identified, among which Pro192fs mutation is discovered for the first time in Chinese population. Above results may enrich our understanding of the clinical manifestations of XLRS and facilitated early diagnosis and genetic counseling for the disease.
authors.affiliation: Institute of Medical Genetics, Henan Provincial People's Hospital, Zhengzhou, P.R. China. chuyan1009@126.com
authors.forename: Yan
authors.initials: Y
authors.lastname: Chu
authors.forename: Dong
authors.initials: D
authors.lastname: Fang
authors.forename: Qiao-fang
authors.initials: QF
authors.lastname: Hou
authors.forename: Li-ya
authors.initials: LY
authors.lastname: Wang
authors.forename: Xi-rang
authors.initials: XR
authors.lastname: Guo
authors.forename: Ying-tai
authors.initials: YT
authors.lastname: Wang
authors.forename: Shi-xiu
authors.initials: SX
authors.lastname: Liao
mesh_terms: D000293:Adolescent; D000328:Adult; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011296:Prenatal Diagnosis; D041441:Retinoschisis / Q000175:diagnosis / Q000235:genetics*
chemical_list: D005136:Eye Proteins; C108726:RS1 protein, human