title: Single nucleotide deletion mutation of KCNH2 gene is responsible for LQT syndrome in a 3-generation Korean family.
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.
authors.affiliation: Department of Biomedical Sciences, Seoul St. Mary's Hospital, The Catholic University of Korea, Seoul, Korea.
authors.forename: Jong Keun
authors.initials: JK
authors.lastname: Park
authors.forename: Yong-Seog
authors.initials: YS
authors.lastname: Oh
authors.forename: Jee-hyun
authors.initials: JH
authors.lastname: Choi
authors.forename: Sungjoo Kim
authors.initials: SK
authors.lastname: Yoon
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics*; D004252:DNA Mutational Analysis; D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels / Q000235:genetics*; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D005838:Genotype; D006801:Humans; D008133:Long QT Syndrome / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D056910:Republic of Korea; D017384:Sequence Deletion
chemical_list: D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels; C000606913:KCNH2 protein, human
keywords: Arrhythmia, Cardiac; Frameshift Mutation; Long QT Syndrome