SCN5A-1795insD founder variant:a unique Dutch experience spanning 7 decades

The SCN5A-1795insD founder variant is a unique SCN5A gene variant found in a large Dutch pedigree that first came to attention in the late 1950s. To date, this is still one of the largest and best described SCN5A founder families worldwide. It was the first time that a single pathogenic variant in SCN5A proved to be sufficient to cause a sodium channel overlap syndrome. Affected family members displayed features of Brugada syndrome, cardiac conduction disease and long QT syndrome type 3, thus encompassing features of both loss and gain of sodium channel function. This brief summary takes us pa... Mehr ...

Verfasser: Proost, Virginnio M
van den Berg, Maarten P
Remme, Carol Ann
Wilde, Arthur A M
Dokumenttyp: Artikel
Erscheinungsdatum: 2023
Reihe/Periodikum: Proost , V M , van den Berg , M P , Remme , C A & Wilde , A A M 2023 , ' SCN5A-1795insD founder variant : a unique Dutch experience spanning 7 decades ' , Netherlands Heart Hournal , vol. 31 , pp. 263–271 . https://doi.org/10.1007/s12471-023-01799-8
Sprache: Englisch
Permalink: https://search.fid-benelux.de/Record/base-29444230
Datenquelle: BASE; Originalkatalog
Powered By: BASE
Link(s) : https://hdl.handle.net/11370/85e1a892-0065-4399-a45e-5c2993ab3633

The SCN5A-1795insD founder variant is a unique SCN5A gene variant found in a large Dutch pedigree that first came to attention in the late 1950s. To date, this is still one of the largest and best described SCN5A founder families worldwide. It was the first time that a single pathogenic variant in SCN5A proved to be sufficient to cause a sodium channel overlap syndrome. Affected family members displayed features of Brugada syndrome, cardiac conduction disease and long QT syndrome type 3, thus encompassing features of both loss and gain of sodium channel function. This brief summary takes us past 70 years of clinical experience and over 2 decades of research. It is remarkable to what extent researchers and clinicians have managed to gain understanding of this complex phenotype in a relatively short time. Extensive clinical, genetic, electrophysiological and molecular studies have provided fundamental insights into SCN5A and the cardiac sodium channel Nav1.5.