A novel CACNA1F mutation in a french family with the incomplete type of X-linked congenital stationary night blindness.
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.
Jacobi
Felix Karl
FK
Zentrum für Augenheilkunde, Universitätsklinikum Giessen, Germany. felix.k.jacobi@augen.med.uni-giessen.de
Hamel
Christian P
CP
Arnaud
Bernard
B
Blin
Nikolaus
N
Broghammer
Martina
M
Jacobi
Philipp C
PC
Apfelstedt-Sylla
Eckart
E
Pusch
Carsten M
CM
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
C113330:CACNA1F protein, human; D015220:Calcium Channels; D020746:Calcium Channels, L-Type