De novo mutation in the KCNQ1 gene causal to Jervell and Lange-Nielsen syndrome.

Details

Serval ID
serval:BIB_12C3E1B114D8
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
De novo mutation in the KCNQ1 gene causal to Jervell and Lange-Nielsen syndrome.
Journal
Clinical Genetics
Author(s)
Al-Aama J.Y., Al-Ghamdi S., Bdier A.Y., Wilde A.A., Bhuiyan Z.A.
ISSN
1399-0004 (Electronic)
ISSN-L
0009-9163
Publication state
Published
Issued date
2014
Volume
86
Number
5
Pages
492-495
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't, pdf:SHORT REPORT
Abstract
Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive disorder, clinically characterized by severe cardiac arrhythmias [due to prolonged QTc interval in electrocardiogram (ECG)] and bilateral sensory neural deafness. Molecular defects causal to JLNS are either homozygous or compound heterozygous mutations, predominantly in the KCNQ1 gene and occasionally in the KCNE1 gene. As the molecular defect is bi-allelic, JLNS patients inherit one pathogenic mutation causal to the disorder from each parent. In this report, we show for the first time that such a disorder could also occur due to a spontaneous de novo mutation in the affected individual, not inherited from the parent, which makes this case unique unlike the previously reported JLNS cases.
Pubmed
Web of science
Create date
02/12/2014 19:10
Last modification date
20/08/2019 13:41
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