Expanding the cerebrovascular phenotype of the p.R258H variant in ACTA2 related hereditary thoracic aortic disease (HTAD)

Heterozygous variants in smooth muscle alpha-actin gene (ACTA2) are the most frequent cause of autosomal dominant hereditary thoracic aortic disease (HTAD). Several genotype-phenotype associations have been described, including a severe multisystemic smooth muscle disorder associated with de novo ACTA2 p.R179 variants, characterized by highly penetrant and early onset vascular disease, involvement of smooth muscle cell (SMC)-dependent organs and a distinct cerebrovascular phenotype. Missense variants at position 258 (p.R258C and p.R258H) have also been reported to have a more severe presentation including an increased risk for aortic dissection and a high risk of stroke.

Source: Journal of the Neurological Sciences - May 11, 2020 Category: Neurology Authors: Birgitte Rode Diness, Rachel Nina Palmquist, Rikke Norling, Hanne Hove, Henning Bundgaard, Jens Michael Hertz, Daniel Kondziella, Derk Krieger, Morten Dun ø, Sabine Grønborg Tags: Clinical Short Communication Source Type: research