TY - JOUR
T1 - Erratum
T2 - Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort (Genetics in Medicine (2022) 24(10) (2112–2122), (S1098360022008462), (10.1016/j.gim.2022.07.009))
AU - van den Bersselaar, Lisa M.
AU - Verhagen, Judith M.A.
AU - Bekkers, Jos A.
AU - Kempers, Marlies
AU - Houweling, Arjan C.
AU - Baars, Marieke
AU - Overwater, Eline
AU - Hilhorst-Hofstee, Yvonne
AU - Barge-Schaapveld, Daniela Q.C.M.
AU - Rompen, Eline
AU - Krapels, Ingrid P.C.
AU - Dulfer, Eelco
AU - Wessels, Marja W.
AU - Loeys, Bart L.
AU - Verhagen, Hence J.M.
AU - Maugeri, Alessandra
AU - Roos-Hesselink, Jolien W.
AU - Brüggenwirth, Hennie T.
AU - van de Laar, Ingrid M.B.H.
N1 - Publisher Copyright: © 2023 The Authors
PY - 2024/2/1
Y1 - 2024/2/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85184666546&partnerID=8YFLogxK
U2 - 10.1016/j.gim.2023.101024
DO - 10.1016/j.gim.2023.101024
M3 - Comment/Letter to the editor
C2 - 38085215
SN - 1098-3600
VL - 26
SP - 101024
JO - Genetics in medicine : official journal of the American College of Medical Genetics
JF - Genetics in medicine : official journal of the American College of Medical Genetics
IS - 2
M1 - 101024
ER -