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

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 fram... 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: 2024
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 2024 , ' Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort ' , Genetics in Medicine , vol. 26 , no. 2 , 101024 . https://doi.org/10.1016/j.gim.2023.101024
Sprache: Englisch
Permalink: https://search.fid-benelux.de/Record/base-27439726
Datenquelle: BASE; Originalkatalog
Powered By: BASE
Link(s) : https://cris.maastrichtuniversity.nl/en/publications/259a6d64-b116-455f-863c-aab7b892658b

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, “ e r.808g>a, both outcomes of the variant c.808G>A” and “f r.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.