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Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response. 2011
Bernd Wissinger, and
Simone Schaich, and
Britta Baumann, and
Michael Bonin, and
Herbert Jägle, and
Christoph Friedburg, and
Balázs Varsányi, and
Carel B Hoyng, and
Hélène Dollfus, and
John R Heckenlively, and
Thomas Rosenberg, and
Günter Rudolph, and
Ulrich Kellner, and
Roberto Salati, and
Astrid Plomp, and
Elfride De Baere, and
Monika Andrassi-Darida, and
Alexandra Sauer, and
Christiane Wolf, and
Ditta Zobor, and
Antje Bernd, and
Bart P Leroy, and
Péter Enyedi, and
Frans P M Cremers, and
Birgit Lorenz, and
Eberhart Zrenner, and
Susanne Kohl
Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University Clinics Tübingen, Germany. wissinger@uni-tuebingen.de
Cone dystrophy with supernormal rod response (CDSRR) is considered to be a very rare autosomal recessive retinal disorder. CDSRR is associated with mutations in KCNV2, a gene that encodes a modulatory subunit (Kv8.2) of a voltage-gated potassium channel. In this study, we found that KCNV2 mutations are present in a substantial fraction (2.2-4.3%) of a sample of 367 independent patients with a variety of initial clinical diagnoses of cone malfunction, indicating that CDSRR is underdiagnosed and more common than previously thought. In total, we identified 20 different KCNV2 mutations; 15 of them are novel. A new finding of this study is the substantial proportion of large deletions at the KCNV2 locus that accounts for 15.5% of the mutant alleles in our sample. We determined the breakpoints and size of all five different deletions, which ranged between 10.9 and 236.8 kb. Two deletions encompass the entire KCNV2 gene and one also includes the adjacent VLDLR gene. Furthermore, we investigated N-terminal amino acid substitution mutations for its effect on interaction with Kv2.1 using yeast two-hybrid technology. We found that these mutations dramatically reduce or abolish this interaction suggesting a lack of assembly of heteromeric Kv channels as one underlying pathomechanism of CDSRR.
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Christoph Friedburg, and
Balázs Varsányi, and
Carel B Hoyng, and
Hélène Dollfus, and
John R Heckenlively, and
Thomas Rosenberg, and
Günter Rudolph, and
Ulrich Kellner, and
Roberto Salati, and
Astrid Plomp, and
Elfride De Baere, and
Monika Andrassi-Darida, and
Alexandra Sauer, and
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Ditta Zobor, and
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Bart P Leroy, and
Péter Enyedi, and
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Birgit Lorenz, and
Eberhart Zrenner, and
Susanne Kohl
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Christoph Friedburg, and
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Hélène Dollfus, and
John R Heckenlively, and
Thomas Rosenberg, and
Günter Rudolph, and
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Monika Andrassi-Darida, and
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