Penetrance and expressivity of the R858H CACNA1C variant in a five-generation pedigree segregating an arrhythmogenic channelopathy.
R J McKinlay GardnerIan G CrozierAlex L BinfieldDonald R LoveKlaus LehnertKate GibsonCaroline J LintottRussell Grant SnellJessie C JacobsenPeter P JonesKathryn E Waddell-SmithMartin Alexander KennedyJonathan R SkinnerPublished in: Molecular genetics & genomic medicine (2018)
These estimates of penetrance and expressivity, for this specific variant, may be useful in clinical practice. Review of the literature indicates that individual CACNA1C variants have their own particular genotype-phenotype correlations. We suggest that, at least in respect of the particular variant reported here, "arrhythmogenic channelopathy" may be a more fitting nomenclature than long QT syndrome.