Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance
BACKGROUND: Variants in KCNH2, encoding the human ether a-go-go (hERG) channel that is responsible for the rapid component of the cardiac delayed rectifier K+ current (IKr), are causal to long QT syndrome type 2 (LQTS2). We identified eight index patients with a new variant of unknown significance (VUS), KCNH2:c.2717C > T:p.(Ser906Leu). We aimed to elucidate the biophysiological effect of this variant, to enable reclassification and consequent clinical decision-making. METHODS: A genotype-phenotype overview of the patients and relatives was created. The biophysiological effects were assesse... Mehr ...
Verfasser: |
Copier, Jaël S.
Bootsma, Marianne
Ng, Chai A.
Wilde, Arthur A.M.
Bertels, Robin A.
Bikker, Hennie
Christiaans, Imke
van der Crabben, Saskia N.
Hol, Janna A.
Koopmann, Tamara T.
Knijnenburg, Jeroen
Lommerse, Aafke A.J.
van der Smagt, Jasper J.
Bezzina, Connie R.
Vandenberg, Jamie I.
Verkerk, Arie O.
Barge-Schaapveld, Daniela Q.C.M.
Lodder, Elisabeth M. |
Dokumenttyp: |
Artikel |
Erscheinungsdatum: |
2023 |
Reihe/Periodikum: |
Copier , J S , Bootsma , M , Ng , C A , Wilde , A A M , Bertels , R A , Bikker , H , Christiaans , I , van der Crabben , S N , Hol , J A , Koopmann , T T , Knijnenburg , J , Lommerse , A A J , van der Smagt , J J , Bezzina , C R , Vandenberg , J I , Verkerk , A O , Barge-Schaapveld , D Q C M & Lodder , E M 2023 , ' Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance ' , Human Molecular Genetics , vol. 32 , no. 7 , pp. 1072-1082 . https://doi.org/10.1093/hmg/ddac261 |
Sprache: |
Englisch |
Permalink: |
https://search.fid-benelux.de/Record/base-26671124 |
Datenquelle: |
BASE;
Originalkatalog |
Powered By: |
BASE |
Link(s) :
|
https://hdl.handle.net/11370/75cd21f3-dbf1-4b87-93bb-c23384056e1c |