title: Jervell and Lange-Nielsen syndrome: novel compound heterozygous mutations in the KCNQ1 in a Korean family.
abstract: The Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive syndrome characterized by congenital deafness and cardiac phenotype (QT prolongation, ventricular arrhythmias, and sudden death). JLNS has been shown to occur due to homozygous mutation in KCNQ1 or KCNE1. There have been a few clinical case reports on JLNS in Korea; however, these were not confirmed by a genetic study. We identified compound heterozygous mutations in KCNQ1 in a 5-yr-old child with JLNS, who visited the hospital due to recurrent syncope and seizures and had congenital sensorineural deafness. His electrocardiogram revealed a markedly prolonged corrected QT interval with T wave alternans. The sequence analysis of the proband revealed the presence of novel compound heterozygous deletion/splicing error mutations (c.828-830 delCTC, p.S277del/c.921G>A, p.V307V). Each mutation in KCNQ1 was identified on the maternal and paternal side. With β-blocker therapy the patient has remained symptom-free for three and a half years.
authors.affiliation: Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
authors.forename: Jae Suk
authors.initials: JS
authors.lastname: Baek
authors.forename: Eun Jung
authors.initials: EJ
authors.lastname: Bae
authors.forename: Sang Yun
authors.initials: SY
authors.lastname: Lee
authors.forename: Sung Sup
authors.initials: SS
authors.lastname: Park
authors.forename: So Yeon
authors.initials: SY
authors.lastname: Kim
authors.forename: Kyu Nam
authors.initials: KN
authors.lastname: Jung
authors.forename: Chung Il
authors.initials: CI
authors.lastname: Noh
mesh_terms: D044466:Asian People / Q000235:genetics*; D002675:Child, Preschool; D004562:Electrocardiography; D005091:Exons; D005190:Family; D017353:Gene Deletion; D006579:Heterozygote; D006801:Humans; D029593:Jervell-Lange Nielsen Syndrome / Q000175:diagnosis / Q000235:genetics*; D051657:KCNQ1 Potassium Channel / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D056910:Republic of Korea
chemical_list: D051657:KCNQ1 Potassium Channel