Titre
Genotype-phenotype analysis of Jervell and Lange-Nielsen syndrome in six families from Saudi Arabia.
Type
article
Institution
UNIL/CHUV/Unisanté + institutions partenaires
Périodique
Auteur(s)
Al-Aama, J.Y.
Auteure/Auteur
Al-Ghamdi, S.
Auteure/Auteur
Bdier, A.Y.
Auteure/Auteur
AlQarawi, A.
Auteure/Auteur
Jiman, O.A.
Auteure/Auteur
Al-Aama, N.
Auteure/Auteur
Al-Aata, J.
Auteure/Auteur
Wilde, A.A.
Auteure/Auteur
Bhuiyan, Z.A.
Auteure/Auteur
Liens vers les personnes
Liens vers les unités
ISSN
1399-0004
Statut éditorial
Publié
Date de publication
2015
Volume
87
Numéro
1
Première page
74
Dernière page/numéro d’article
79
Peer-reviewed
Oui
Langue
anglais
Notes
Publication types: Journal Article Publication Status: ppublish
Résumé
We sought to explore the genotype-phenotype of Jervell and Lange-Nielsen syndrome (JLNS) patients in Saudi Arabia. We have also assessed the plausible effect of consanguinity into the pathology of JLNS. Six families with at least one JLNS-affected member attended our clinic between 2011 and 2013. Retrospective and prospective clinical data were collected and genetic investigation was performed. Pathogenic mutations in the KCNQ1 gene were detected in all JLNS patients. The homozygous mutations detected were Leu273Phe, Asp202Asn, Ile567Thr, and c.1486_1487delCT and compound heterozygous mutations were c.820_ 830del and c.1251+1G>T. All living JLNS patients except one had a QTc of >500 ms and a history of recurrent syncope. β-Blockers abolished the cardiac-related events in all patients except two siblings with homozygous Ile567Thr mutation. Four of the six mutations were originally reported in autosomal dominant long QT syndrome (LQTS) patients. Eighty percent of the heterozygote mutation carriers showed prolongation of QTc, but majority of these reported no symptoms attributable to arrhythmias. Mutations detected in this study will be advantageous in tribe and region-specific cascade screening of LQTS in Saudi Arabia.
PID Serval
serval:BIB_C6B12351CD0F
PMID
Date de création
2015-01-29T19:16:15.857Z
Date de création dans IRIS
2025-05-21T01:24:20Z