ArticleMolecular genetics & genomic medicine2017
Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia.
Article in Molecular genetics & genomic medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 7 citations in OpenAlex.
- Clinical and Genetic Characteristics of Hereditary Arrhythmias and Cardiomyopathies in the Middle East.Mayo Clinic proceedings. Innovations, quality & outcomes · 2026Review
- Monogenic Syndromes as a Cause of Adverse Drug Reactions in the Russian Population.International journal of molecular sciences · 2026Article
- Functional testing for variant prioritization in a family with long QT syndrome.Molecular genetics and genomics : MGG · 2021Article
- Article
- Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia.Molecular genetics & genomic medicine · 2017Article
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Authors and funding
10 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundOne of the most common primary cardiac arrhythmia syndromes is autosomal dominant long QT syndrome, type 1 (LQT1), chiefly caused by mono-allelic mutations in the
methodsWe used Sanger sequencing to detect the pathogenic mutations in
resultsWe have detected pathogenic mutations in all eight families, two of the mutations are founder mutations, which are c.387-5T>A and p.Val172Met/p.Arg293Cys (
conclusionTo the best of our knowledge, this is the first description of a large series of patients with familial autosomal recessive LQT, type 1. These mutations could be used for targeted screening in cardiac arrhythmia patients in Saudi Arabia and in people of Arabic ancestry.
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