title: Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness.
abstract: OBJECTIVE
  To describe the clinical features and genetic analysis of eight X-linked congenital stationary night blindness (XLCSNB) Dutch patients.
  
  
  METHODS
  Electroretinogram (ERG) measurements were assessed in Dutch patients. Molecular genetic testing by denaturing high performance liquid chromatography (DHPLC), single stranded conformation polymorphism (SSCP) analysis, and direct sequencing of the CACNA1F and NYX genes were performed in the patients possessing a negative Schubert Bornschein ERG.
  
  
  RESULTS
  Molecular genetic testing of CACNA1F and NYX revealed three novel and two known CACNA1F sequence variants as well as two novel sequence alterations in the NYX gene. While one of the CACNA1F sequence variants (5756G>A, R1919H) has been previously described as a common polymorphism in Japanese families, we did not found this transition in 100 European control alleles.
  
  
  CONCLUSIONS
  In a pool of eight diagnosed XLCSNB patients, five showed a sequence variation in the CACNA1F and two in the NYX gene. In only one of the eight patients no sequence alteration could be detected. This might be explained by a mutation in other, as yet unidentified coding or regulatory sequences of NYX or CACNA1F or additional genes.
authors.affiliation: Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Zurich, Switzerland. zeitz@medgen.unizh.ch
authors.forename: Christina
authors.initials: C
authors.lastname: Zeitz
authors.forename: Roberta
authors.initials: R
authors.lastname: Minotti
authors.forename: Silke
authors.initials: S
authors.lastname: Feil
authors.forename: Gábor
authors.initials: G
authors.lastname: Mátyás
authors.forename: Frans P M
authors.initials: FP
authors.lastname: Cremers
authors.forename: Carel B
authors.initials: CB
authors.lastname: Hoyng
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Berger
mesh_terms: D000328:Adult; D000368:Aged; D020746:Calcium Channels, L-Type / Q000235:genetics*; D002648:Child; D002851:Chromatography, High Pressure Liquid; D004252:DNA Mutational Analysis; D004585:Electrooculography; D004596:Electroretinography; D040181:Genetic Diseases, X-Linked / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D009154:Mutation; D009426:Netherlands; D009755:Night Blindness / Q000151:congenital* / Q000503:physiopathology; D010775:Photic Stimulation; D018807:Polymorphism, Single-Stranded Conformational; D011509:Proteoglycans / Q000235:genetics*
chemical_list: C113330:CACNA1F protein, human; D020746:Calcium Channels, L-Type; C416505:NYX protein, human; D011509:Proteoglycans