Single Nucleotide Deletion Mutation of KCNH2 Gene is Responsible for LQT Syndrome in a 3-Generation Korean Family
Journal of Korean Medical Science
;
: 1388-1393, 2013.
Article
Dans Anglais
| WPRIM
| ID: wpr-44043
ABSTRACT
Long QT syndrome (LQTS) is characterized by the prolongation of the QT interval in ECG and manifests predisposition to life threatening arrhythmia which often leads to sudden cardiac death. We encountered a 3-generation family with 5 affected family members in which LQTS was inherited in autosomal dominant manner. The LQTS is considered an ion channel disorder in which the type and location of the genetic mutation determines to a large extent the expression of the clinical syndrome. Upon screening of the genomic sequences of cardiac potassium ion channel genes, we found a single nucleotide C deletion mutation in the exon 3 of KCNH2 gene that co-segregates with the LQTS in this family. This mutation presumably resulted in a frameshift mutation, P151fs+15X. This study added a new genetic cause to the pool of mutations that lead to defected potassium ion channels in the heart.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Pedigree
/
Syndrome du QT long
/
Analyse de mutations d'ADN
/
Exons
/
Mutation avec décalage du cadre de lecture
/
Délétion de séquence
/
Asiatiques
/
Canaux potassiques éther-à-go-go
/
République de Corée
/
Génotype
Limites du sujet:
Adolescent
/
Adulte
/
Adulte très âgé
/
Aged80
/
Femelle
/
Humains
/
Mâle
Pays comme sujet:
Asie
langue:
Anglais
Texte intégral:
Journal of Korean Medical Science
Année:
2013
Type:
Article
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