Article

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

2025-10-28

Abstract excerpt

<h4>Background/Objectives</h4> Jervell 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, provid...

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Literature Corpus work: 27f5ac8a-b53e-5f06-b139-e1fab19301f6
DOI: 10.1101/2025.10.22.25336867

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