Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia.

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State: Public
Version: Final published version
License: CC BY 4.0
Serval ID
serval:BIB_137B62B23653
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia.
Journal
Molecular genetics & genomic medicine
Author(s)
Bdier A.Y., Al-Ghamdi S., Verma P.K., Dagriri K., Alshehri B., Jiman O.A., Ahmed S.E., Wilde AAM, Bhuiyan Z.A., Al-Aama J.Y.
ISSN
2324-9269 (Electronic)
ISSN-L
2324-9269
Publication state
Published
Issued date
09/2017
Peer-reviewed
Oui
Volume
5
Number
5
Pages
592-601
Language
english
Notes
Publication types: Journal Article
Publication Status: epublish
Abstract
One 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 javax.xml.bind.JAXBElement@1ece3341 gene. Bi-allelic mutations in the javax.xml.bind.JAXBElement@7269232c gene are causal to Jervell and Lange-Nielsen syndrome (JLNS), characterized by severe and early-onset arrhythmias with prolonged QTc interval on surface ECG and sensorineural deafness. Occasionally, bi-allelic mutations in javax.xml.bind.JAXBElement@2001e7dc are also found in patients without any deafness, referred to as autosomal recessive long QT syndrome, type 1 (AR LQT1).
We used Sanger sequencing to detect the pathogenic mutations in javax.xml.bind.JAXBElement@4f6526ea gene in eight families from Saudi Arabia with autosomal recessive LQT1.
We 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 ( javax.xml.bind.JAXBElement@205e407c ). QTc and cardiac phenotype was found to be pronounced in all the probands comparable to the cardiac phenotype in JLNS patients. Heterozygous carriers for these mutations did not exhibit any clinical phenotype, but a significant number of them have sinus bradycardia.
To 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.

Keywords
Arrhythmia, Saudi Arabia, autosomal recessive, long QT syndrome
Pubmed
Web of science
Open Access
Yes
Create date
01/03/2018 17:56
Last modification date
20/08/2019 13:42
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