title: A novel CACNA1F mutation in a french family with the incomplete type of X-linked congenital stationary night blindness.
abstract: OBJECTIVE
  To describe a French family with the incomplete type of X-linked congenital stationary night blindness (CSNB2) associated with a novel mutation in the retina-specific calcium channel alpha(1) subunit gene (CACNA1F).
  
  
  METHODS
  Interventional case report.
  
  
  METHODS
  Two family members with a history of nonprogressive night blindness and subnormal visual acuity were clinically examined and the genotype determined by molecular genetic analysis.
  
  
  RESULTS
  Both patients had clinical manifestations characteristic of CSNB2. Electrophysiologically, we found a predominant reduction of the ERG B-wave in the maximal response. Both rod and cone function were subnormal, with the latter tending to be more attenuated. We identified a C deletion at nucleotide position 4548, resulting in a frameshift with a predicted premature termination at codon 1524.
  
  
  CONCLUSIONS
  The clinical and genetic study of a novel mutation in the CACNA1F gene adds further support to the contention that CSNB2 represents a genetically distinct retinal disorder of a calcium channel.
authors.affiliation: Zentrum für Augenheilkunde, Universitätsklinikum Giessen, Germany. felix.k.jacobi@augen.med.uni-giessen.de
authors.forename: Felix Karl
authors.initials: FK
authors.lastname: Jacobi
authors.forename: Christian P
authors.initials: CP
authors.lastname: Hamel
authors.forename: Bernard
authors.initials: B
authors.lastname: Arnaud
authors.forename: Nikolaus
authors.initials: N
authors.lastname: Blin
authors.forename: Martina
authors.initials: M
authors.lastname: Broghammer
authors.forename: Philipp C
authors.initials: PC
authors.lastname: Jacobi
authors.forename: Eckart
authors.initials: E
authors.lastname: Apfelstedt-Sylla
authors.forename: Carsten M
authors.initials: CM
authors.lastname: Pusch
mesh_terms: D015220:Calcium Channels / Q000235:genetics* / Q000378:metabolism; D020746:Calcium Channels, L-Type; D041321:Chromosomes, Human, X / Q000235:genetics; D004596:Electroretinography; D016368:Frameshift Mutation; D005602:France; D017353:Gene Deletion; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009755:Night Blindness / Q000151:congenital / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D020419:Photoreceptor Cells, Vertebrate / Q000502:physiology; D014792:Visual Acuity
chemical_list: C113330:CACNA1F protein, human; D015220:Calcium Channels; D020746:Calcium Channels, L-Type