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

Research output: Contribution to journal › Journal article › Research › peer-review

Standard

Expanding the cerebrovascular phenotype of the p.R258H variant in ACTA2 related hereditary thoracic aortic disease (HTAD). / Diness, Birgitte Rode; Palmquist, Rachel Nina; Norling, Rikke; Hove, Hanne; Bundgaard, Henning; Hertz, Jens Michael; Kondziella, Daniel; Krieger, Derk; Dunø, Morten; Grønborg, Sabine.

In: Journal of the Neurological Sciences, Vol. 415, 116897, 2020.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Diness, BR, Palmquist, RN, Norling, R, Hove, H, Bundgaard, H, Hertz, JM, Kondziella, D, Krieger, D, Dunø, M & Grønborg, S 2020, 'Expanding the cerebrovascular phenotype of the p.R258H variant in ACTA2 related hereditary thoracic aortic disease (HTAD)', Journal of the Neurological Sciences, vol. 415, 116897. https://doi.org/10.1016/j.jns.2020.116897

APA

Diness, B. R., Palmquist, R. N., Norling, R., Hove, H., Bundgaard, H., Hertz, J. M., Kondziella, D., Krieger, D., Dunø, M., & Grønborg, S. (2020). Expanding the cerebrovascular phenotype of the p.R258H variant in ACTA2 related hereditary thoracic aortic disease (HTAD). Journal of the Neurological Sciences, 415, [116897]. https://doi.org/10.1016/j.jns.2020.116897

Vancouver

Diness BR, Palmquist RN, Norling R, Hove H, Bundgaard H, Hertz JM et al. Expanding the cerebrovascular phenotype of the p.R258H variant in ACTA2 related hereditary thoracic aortic disease (HTAD). Journal of the Neurological Sciences. 2020;415. 116897. https://doi.org/10.1016/j.jns.2020.116897

Author

Diness, Birgitte Rode ; Palmquist, Rachel Nina ; Norling, Rikke ; Hove, Hanne ; Bundgaard, Henning ; Hertz, Jens Michael ; Kondziella, Daniel ; Krieger, Derk ; Dunø, Morten ; Grønborg, Sabine. / Expanding the cerebrovascular phenotype of the p.R258H variant in ACTA2 related hereditary thoracic aortic disease (HTAD). In: Journal of the Neurological Sciences. 2020 ; Vol. 415.

Bibtex

@article{67ca3b790c2949389ce05f5276ef5474,
title = "Expanding the cerebrovascular phenotype of the p.R258H variant in ACTA2 related hereditary thoracic aortic disease (HTAD)",
abstract = "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. It has previously been suggested that the cerebrovascular phenotype of patients with p.R258 variants could represent a mild presentation of the cerebrovascular phenotype associated with p.R179 variants. Here we report on a five generation HTAD family with the p.R258H variant and describe the cerebrovascular findings seen in three family members, to expand on the previously reported phenotype associated with variants at this codon.",
keywords = "ACTA2, Arteriopathy, HTAD",
author = "Diness, {Birgitte Rode} and Palmquist, {Rachel Nina} and Rikke Norling and Hanne Hove and Henning Bundgaard and Hertz, {Jens Michael} and Daniel Kondziella and Derk Krieger and Morten Dun{\o} and Sabine Gr{\o}nborg",
year = "2020",
doi = "10.1016/j.jns.2020.116897",
language = "English",
volume = "415",
journal = "Journal of the Neurological Sciences",
issn = "0022-510X",
publisher = "Elsevier",

}

RIS

TY - JOUR

T1 - Expanding the cerebrovascular phenotype of the p.R258H variant in ACTA2 related hereditary thoracic aortic disease (HTAD)

AU - Diness, Birgitte Rode

AU - Palmquist, Rachel Nina

AU - Norling, Rikke

AU - Hove, Hanne

AU - Bundgaard, Henning

AU - Hertz, Jens Michael

AU - Kondziella, Daniel

AU - Krieger, Derk

AU - Dunø, Morten

AU - Grønborg, Sabine

PY - 2020

Y1 - 2020

N2 - 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. It has previously been suggested that the cerebrovascular phenotype of patients with p.R258 variants could represent a mild presentation of the cerebrovascular phenotype associated with p.R179 variants. Here we report on a five generation HTAD family with the p.R258H variant and describe the cerebrovascular findings seen in three family members, to expand on the previously reported phenotype associated with variants at this codon.

AB - 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. It has previously been suggested that the cerebrovascular phenotype of patients with p.R258 variants could represent a mild presentation of the cerebrovascular phenotype associated with p.R179 variants. Here we report on a five generation HTAD family with the p.R258H variant and describe the cerebrovascular findings seen in three family members, to expand on the previously reported phenotype associated with variants at this codon.

KW - ACTA2

KW - Arteriopathy

KW - HTAD

U2 - 10.1016/j.jns.2020.116897

DO - 10.1016/j.jns.2020.116897

M3 - Journal article

C2 - 32464348

AN - SCOPUS:85085166977

VL - 415

JO - Journal of the Neurological Sciences

JF - Journal of the Neurological Sciences

SN - 0022-510X

M1 - 116897

ER -

ID: 250970666