title: Four novel RS1 gene mutations in Polish patients with X-linked juvenile retinoschisis.
abstract: OBJECTIVE
  To determine the clinical features and to identify mutations in the retinoschisis gene (RS1) in ten patients with X-linked retinoschisis (XLRS).
  
  
  METHODS
  Ten male patients from nine Polish families were included in this study. Ophthalmologic examinations, including optical coherence tomography (OCT) and full-field electroretinography (ERG), were performed in all affected boys. The entire coding region encompassing six exons of the RS1 gene was amplified with PCR and directly sequenced in all the patients.
  
  
  RESULTS
  All affected individuals showed typical retinoschisis signs and symptoms, and all appeared to have a mutation in the RS1 gene. Seven different mutations were identified, including two novel missense substitutions: c.176G>C (p.Cys59Ser), c.451T>A (p.Tyr151Asp); one novel nonsense substitution: c.218C>A (p.Ser73*); and one novel frameshift mutation: c.354_355delCA (p.Asp118Glufs*2). We also found two missense substitutions that had been previously described: c.214G>A (p.Glu72Lys) and c.626G>T (p.Arg209Leu) and one known splice site mutation in intron 5: c.522+1G>T (IVS5+1G>T).
  
  
  CONCLUSIONS
  This study provides the first molecular genetic characteristics of patients with juvenile retinoschisis from the previously unexplored Polish population. We investigated the molecular background of XLRS in ten boys. The present study reports for the first time four novel mutations, including two missense substitutions, one nonsense substitution, and one frameshift deletion. One of these substitutions and 2-bp deletion created stop codons. Moreover, we described three substitutions that had been previously reported (one is a splicing mutation). Further genetic characterization of Polish patients with XLRS will be helpful in understanding the worldwide spectrum of RS1 mutations. Despite the mutation heterogeneity found in a small group of our patients, they presented a relatively uniform clinical picture. Identifying the causative mutation is helpful in confirming diagnosis and counseling, but cannot provide prognostic data.
authors.affiliation: Department of Medical Genetics, Poznan University of Medical Sciences, Poznań, Poland.
authors.forename: Anna
authors.initials: A
authors.lastname: Skorczyk
authors.forename: Maciej R
authors.initials: MR
authors.lastname: Krawczyński
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis; D004596:Electroretinography; D005091:Exons; D005136:Eye Proteins / Q000235:genetics*; D006801:Humans; D007438:Introns; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D011044:Poland; D016133:Polymerase Chain Reaction; D041441:Retinoschisis / Q000175:diagnosis / Q000235:genetics*; D041623:Tomography, Optical Coherence; D044465:White People
chemical_list: D005136:Eye Proteins; C108726:RS1 protein, human