A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants

2001 ◽  
Vol 108 (2) ◽  
pp. 91-97 ◽  
Author(s):  
Kym Boycott ◽  
Tracy Maybaum ◽  
Margaret Naylor ◽  
Richard Weleber ◽  
Johane Robitaille ◽  
...  
Keyword(s):  
Night Blindness ◽  
Splice Variants ◽  
Congenital Stationary Night Blindness

scholarly journals Functional impact of a congenital stationary night blindness type 2 mutation depends on subunit composition of Cav1.4 Ca2+ channels

2020 ◽  
Vol 295 (50) ◽  
pp. 17215-17226
Author(s):  
Brittany Williams ◽  
Josue A. Lopez ◽  
J. Wesley Maddox ◽  
Amy Lee
Keyword(s):  
Night Blindness ◽  
Splice Variants ◽  
Ion Selectivity ◽  
Reversal Potential ◽  
Congenital Stationary Night Blindness ◽  
Auxiliary Subunits ◽  
Retinal Photoreceptors ◽  
Channel Opening ◽  
The Impact

Voltage-gated Cav1 and Cav2 Ca2+ channels are comprised of a pore-forming α1 subunit (Cav1.1-1.4, Cav2.1-2.3) and auxiliary β (β1-4) and α2δ (α2δ−1−4) subunits. The properties of these channels vary with distinct combinations of Cav subunits and alternative splicing of the encoding transcripts. Therefore, the impact of disease-causing mutations affecting these channels may depend on the identities of Cav subunits and splice variants. Here, we analyzed the effects of a congenital stationary night blindness type 2 (CSNB2)-causing mutation, I745T (IT), in Cav1.4 channels typical of those in human retina: Cav1.4 splice variants with or without exon 47 (Cav1.4+ex47 and Cav1.4Δex47, respectively), and the auxiliary subunits, β2X13 and α2δ-4. We find that IT caused both Cav1.4 splice variants to activate at significantly more negative voltages and with slower deactivation kinetics than the corresponding WT channels. These effects of the IT mutation, along with unexpected alterations in ion selectivity, were generally larger in channels lacking exon 47. The weaker ion selectivity caused by IT led to hyperpolarizing shifts in the reversal potential and large outward currents that were evident in channels containing the auxiliary subunits β2X13 and α2δ-4 but not in those with β2A and α2δ-1. We conclude that the IT mutation stabilizes channel opening and alters ion selectivity of Cav1.4 in a manner that is strengthened by exclusion of exon 47 and inclusion of β2X13 and α2δ-4. Our results reveal complex actions of IT in modifying the properties of Cav1.4 channels, which may influence the pathological consequences of this mutation in retinal photoreceptors.

scholarly journals Biophysical characterization of CaV1.4 L-type calcium channel mutants causing congenital stationary night blindness type 2 in humans

2012 ◽  
Vol 13 (Suppl 1) ◽  
pp. A69
Author(s):  
Klaus W Schicker ◽  
Verena Burtscher ◽  
Dagmar Knoflach ◽  
Anamika Singh ◽  
Thomas Stockner ◽  
...  
Keyword(s):  
Calcium Channel ◽  
Night Blindness ◽  
Congenital Stationary Night Blindness ◽  
Biophysical Characterization

Identification and characterization of novel splice variants of human farnesoid X receptor

2021 ◽  
pp. 108893
Author(s):  
Enni-Kaisa Mustonen ◽  
Serene M.L. Lee ◽  
Hanno Nieß ◽  
Matthias Schwab ◽  
Tatu Pantsar ◽  
...  
Keyword(s):  
Splice Variants ◽  
Farnesoid X Receptor ◽  
Identification And Characterization

scholarly journals Substantial restoration of night vision in adult mice with congenital stationary night blindness

2021 ◽  
Author(s):  
Juliette Varin ◽  
Nassima Bouzidi ◽  
Gregory Gauvain ◽  
Corentin Joffrois ◽  
Melissa Desrosiers ◽  
...  
Keyword(s):  
Night Blindness ◽  
Night Vision ◽  
Congenital Stationary Night Blindness ◽  
Adult Mice

Complete congenital stationary night blindness associated with a novel NYX variant (p.Asn216Lys) in middle-aged and older adult patients

2021 ◽  
pp. 1-8
Author(s):  
Takaaki Hayashi ◽  
Yusuke Murakami ◽  
Kei Mizobuchi ◽  
Yoshito Koyanagi ◽  
Koh-Hei Sonoda ◽  
...  
Keyword(s):  
Older Adult ◽  
Night Blindness ◽  
Adult Patients ◽  
Congenital Stationary Night Blindness ◽  
Middle Aged

scholarly journals A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene

2011 ◽  
Vol 90 (3) ◽  
pp. e192-e197 ◽  
Author(s):  
Panagiotis I. Sergouniotis ◽  
Anthony G. Robson ◽  
Zheng Li ◽  
Sophie Devery ◽  
Graham E. Holder ◽  
...  
Keyword(s):  
Night Blindness ◽  
Congenital Stationary Night Blindness
Sign in / Sign up

Export Citation Format

Share Document