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The mutational spectrum of Jervell and Lange-Nielsen syndrome: insights from highly consanguineous families

2025-10-28 cardiovascular medicine Title + abstract only
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Background/ObjectivesJervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive disease caused by mutations in KCNQ1 or KCNE1. It is characterized by prolonged QT interval on electrocardiogram, deafness and an increased risk of sudden cardiac death (SCD) (25%). Given the high consanguinity rate (35%) in the Middle East and North Africa region (MENA), an enrichment of JLNS is expected, providing a powerful opportunity to identify ancestry-specific genetic determinants. We report genetic ...

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