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
in English
| WPRIM (Western Pacific)
| ID: wpr-44043
Responsible library:
WPRO
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.
Full text:
Available
Health context:
SDG3 - Target 3.4 Reduce premature mortality due to noncommunicable diseases
Health problem:
Cardiovascular Disease
/
Congenital and Chromosomal Anomalies
Database:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Long QT Syndrome
/
DNA Mutational Analysis
/
Exons
/
Frameshift Mutation
/
Sequence Deletion
/
Asian People
/
Ether-A-Go-Go Potassium Channels
/
Republic of Korea
/
Genotype
Limits:
Adolescent
/
Adult
/
Aged
/
Aged, 80 and over
/
Female
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
English
Journal:
Journal of Korean Medical Science
Year:
2013
Document type:
Article