Expanding the genetic and phenotypic spectrum of ACTA2 -related vasculopathies in a Dutch cohort
PURPOSE: Heterozygous pathogenic/likely pathogenic (P/LP) variants in the ACTA2 gene confer a high risk for thoracic aortic aneurysms and aortic dissections. This retrospective multicenter study elucidates the clinical outcome of ACTA2-related vasculopathies. METHODS: Index patients and relatives with a P/LP variant in ACTA2 were included. Data were collected through retrospective review of medical records using a standardized questionnaire. RESULTS: A total of 49 individuals from 28 families participated in our study. In total, 20 different ACTA2 variants were detected. Aortic events occurred... Mehr ...
| Verfasser: |
van den Bersselaar, Lisa M.
Verhagen, Judith M.A.
Bekkers, Jos A.
Kempers, Marlies
Houweling, Arjan C.
Baars, Marieke
Overwater, Eline
Hilhorst-Hofstee, Yvonne
Barge-Schaapveld, Daniela Q.C.M.
Rompen, Eline
Krapels, Ingrid P.C.
Dulfer, Eelco
Wessels, Marja W.
Loeys, Bart L.
Verhagen, Hence J.M.
Maugeri, Alessandra
Roos-Hesselink, Jolien W.
Brüggenwirth, Hennie T.
van de Laar, Ingrid M.B.H. |
| Dokumenttyp: |
Artikel |
| Erscheinungsdatum: |
2022 |
| Reihe/Periodikum: |
van den Bersselaar , L M , Verhagen , J M A , Bekkers , J A , Kempers , M , Houweling , A C , Baars , M , Overwater , E , Hilhorst-Hofstee , Y , Barge-Schaapveld , D Q C M , Rompen , E , Krapels , I P C , Dulfer , E , Wessels , M W , Loeys , B L , Verhagen , H J M , Maugeri , A , Roos-Hesselink , J W , Brüggenwirth , H T & van de Laar , I M B H 2022 , ' Expanding the genetic and phenotypic spectrum of ACTA2 -related vasculopathies in a Dutch cohort ' , Genetics in Medicine , vol. 24 , no. 10 , pp. 2112-2122 . https://doi.org/10.1016/j.gim.2022.07.009 |
| Sprache: |
Englisch |
| Permalink: |
https://search.fid-benelux.de/Record/base-27461675 |
| Datenquelle: |
BASE;
Originalkatalog |
| Powered By: |
BASE |
| Link(s) :
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https://pure.eur.nl/en/publications/f9755570-5ef0-41b5-bdb1-bd3ba057c2f1 |
