Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort

Lisa M van den Bersselaar, Judith M A Verhagen, Jos A Bekkers, Marlies Kempers, Arjan C Houweling, Marieke Baars, Eline Overwater, Yvonne Hilhorst-Hofstee, Daniela Q C M Barge-Schaapveld, Eline Rompen, Ingrid P C Krapels, Eelco Dulfer, Marja W Wessels, Bart L Loeys, Hence J M Verhagen, Alessandra Maugeri, Jolien W Roos-Hesselink, Hennie T Brüggenwirth, Ingrid M B H van de Laar*

*Corresponding author for this work

Research output: Contribution to journalErratum / corrigendum / retractionsAcademic

Abstract

Correction to: Genetics in Medicine 2022; https://doi.org/10.1016/j.gim.2022.07.009, published online 2 September 2022. In the article “Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort” (Genet Med 2022;24:2112-2122), the following updates were made. On page 2114 (Molecular studies section), the sentence “Functional assay for the splice variant p.[Ala206Gly,Glu207_Ile269del] showed no aberrant splicing and an equal presence of both alleles.” was changed to “Functional assay for the splice variant c.808G>A showed aberrant splicing and an (in frame) exon 7 mRNA deletion, with equal presence of both alleles (Table 2).” On page 2115 (Table 2), in the “Protein Change” column “p.[Ala206Gly,Glu207_Ile269del]” was changed to “p.[Gly270Arg] e and p.[p.Ala206_Ile269del] f.” In the list of footnotes at the bottom of Table 2, “ er.808g>a, both outcomes of the variant c.808G>A” and “fr.617_808del, both outcomes of the variant c.808G>A” were added to the Table 2 footnote list. On page 2117, Table 4 table body (under column ACTA2 Variant) “p.[Ala206Gly,Glu207_Ile269del]” was changed to “p.[Gly270Arg], p.[Ala206_Ile269del]” and “p.[Ala206Gly,Glu207_Ile269del]” was changed to “p.[Gly270Arg], p.[Ala206_Ile269del]” (rows 10 and 13). On page 2119 (right-hand column, second paragraph), the sentence “The other 2 variants in our study associated with iris flocculi were novel, namely p.[Ala206Gly,Glu207_Ile269del] and p.(Thr162Asn).” was changed to “The other 2 variants in our study associated with iris flocculi were novel, namely p.[Gly270Arg], p.[Ala206_Ile269del] and p.(Thr162Asn).” The article has been corrected online and can be accessed at https://doi.org/10.1016/j.gim.2022.07.009.

Original languageEnglish
Article number101024
Number of pages1
JournalGenetics in Medicine
Volume26
Issue number2
Early online date11 Dec 2023
DOIs
Publication statusPublished - Feb 2024

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  • Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort

    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., Bruggenwirth, H. T. & Van De Laar, I. M. B. H., 1 Oct 2022, In: Genetics in Medicine. 24, 10, p. 2112-2122 11 p.

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access

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