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

Clinical genetics, 2014-11, Vol.86 (5), p.492-495 [Peer Reviewed Journal]

2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd ;2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. ;ISSN: 0009-9163 ;EISSN: 1399-0004 ;DOI: 10.1111/cge.12300 ;PMID: 24125535

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Title:
De novo mutation in the KCNQ1 gene causal to Jervell and Lange-Nielsen syndrome
Author: Al-Aama, J.Y. ; Al-Ghamdi, S. ; Bdier, A.Y. ; Wilde, A.A.M. ; Bhuiyan, Zahurul A.
Subjects: arrhythmia ; Base Sequence ; Cardiac arrhythmia ; Cardiovascular disease ; Child, Preschool ; de novo mutation ; deafness ; Family ; Female ; Genetic Predisposition to Disease ; Genetics ; Humans ; Infant, Newborn ; Jervell and Lange-Nielsen syndrome ; Jervell-Lange Nielsen Syndrome - genetics ; KCNQ1 Potassium Channel - genetics ; Male ; Molecular Sequence Data ; Mutation ; Mutation - genetics ; Pedigree
Is Part Of: Clinical genetics, 2014-11, Vol.86 (5), p.492-495
Description: 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.
Publisher: Oxford, UK: Blackwell Publishing Ltd
Language: English
Identifier: ISSN: 0009-9163
EISSN: 1399-0004
DOI: 10.1111/cge.12300
PMID: 24125535
Source: MEDLINE
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De novo mutation in the KCNQ1 gene causal to Jervell and Lange-Nielsen syndrome

2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd ;2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. ;ISSN: 0009-9163 ;EISSN: 1399-0004 ;DOI: 10.1111/cge.12300 ;PMID: 24125535

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