Novel Splice-Altering Variants in the CHM and CACNA1F Genes Causative of X-Linked Choroideremia and Cone Dystrophy

An estimated 10-15% of all genetic diseases are attributable to variants in noncanonical splice sites, auxiliary splice sites and deep-intronic variants. Most of these unstudied variants are classified as variants of uncertain significance (VUS), which are not clinically actionable. This study inves...

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Veröffentlicht in:	Genes 2024-12, Vol.16 (1), p.25
Hauptverfasser:	Ridgeway, Anna R, Shortall, Ciara, Finnegan, Laura K, Long, Róisín, Matthews, Evan, Dockery, Adrian, Kopčić, Ella, Whelan, Laura, Kirk, Claire, Silvestri, Giuliana, Turner, Jacqueline, Keegan, David J, Millington-Ward, Sophia, Chadderton, Naomi, Duignan, Emma, Kenna, Paul F, Farrar, G Jane
Format:	Artikel
Sprache:	eng
Schlagworte:	Adaptor Proteins, Signal Transducing Adult Calcium Channels, L-Type - genetics Choroideremia - genetics Choroideremia - pathology Cloning Cloning vectors Cone Dystrophy - genetics Cone Dystrophy - pathology Disease Dystrophy Enzymes Expression vectors Female Gene expression Genes Genetic analysis Genetic Diseases, X-Linked - genetics Genetic Diseases, X-Linked - pathology Genetic disorders Genetic screening Genomic analysis Genomics HEK293 Cells High-Throughput Nucleotide Sequencing Humans Male Mutation Next-generation sequencing Pedigree Retinal degeneration RNA Splicing - genetics Software Splicing Visual acuity Working groups
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