Serendipity and Inquisitiveness are the Mothers of Invention
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One of the joys of a life in research is watching a prepared and inquisitive mind meet an unexpected finding, seemingly mundane, but opening new possibilities. So it is with the article by Swayne et al1 in this issue, who describe a novel ANK2 mutation associated with a prolonged QT interval in a population already enriched for a KCNQ1 mutation causing long QT syndrome. While expecting 1 mutation, they found quite another, and it may have implications beyond ECG abnormalities.
See article by Swayne et al
The authors were studying genetic arrhythmias in the Gitxsan First Nation, a remote population on the Skeena River in northern coastal British Columbia. The Gitxsan have been present for thousands of years and might be descendants of the first Asian explorers to travel down the northwest coast over 13 000 years ago. The coastline is rugged with steeply lined fiords, and travel among the remote communities historically has been by water. Although the potlatch hospitality is legendary, the geographic barriers are real, and the populations are isolated.
Over 10 years ago, outreach cardiology clinics from the University of British Columbia noted a high prevalence of the long QT syndrome LQT1 in the Gitxsan people.2,3 Most of these people had a KCNQ1 mutation that dated back many generations, but some did not, presumably having a second and until recently unknown mutation. Swayne et al1 provide evidence that this may be LQT4, because of a mutation in the Ankyrin-B gene. Two families of patients with a variably prolonged QT share the same …