PURPOSE: 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). DESIGN: 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. RESULT: 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.
PURPOSE: 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). DESIGN: 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. RESULT: 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: R Jalkanen; M Mäntyjärvi; R Tobias; J Isosomppi; E-M Sankila; T Alitalo; N T Bech-Hansen Journal: J Med Genet Date: 2006-02-27 Impact factor: 6.318
Authors: Christina Zeitz; Barbara Kloeckener-Gruissem; Ursula Forster; Susanne Kohl; István Magyar; Bernd Wissinger; Gábor Mátyás; François-Xavier Borruat; Daniel F Schorderet; Eberhart Zrenner; Francis L Munier; Wolfgang Berger Journal: Am J Hum Genet Date: 2006-08-23 Impact factor: 11.025
Authors: Clinton J Doering; Renata Rehak; Stephan Bonfield; Jean B Peloquin; William K Stell; Silvina C Mema; Yves Sauvé; John E McRory Journal: PLoS One Date: 2008-07-02 Impact factor: 3.240