Àá½Ã¸¸ ±â´Ù·Á ÁÖ¼¼¿ä. ·ÎµùÁßÀÔ´Ï´Ù.
KMID : 0191120100250101522
Journal of Korean Medical Science
2010 Volume.25 No. 10 p.1522 ~ p.1525
Jervell and Lange-Nielsen Syndrome: Novel Compound Heterozygous Mutations in the KCNQ1 in a Korean Family
Baek Jae-Suk

Bae Eun-Jung
Lee Sang-Yun
Park Sung-Sup
Kim So-Yeon
Jung Kyu-Nam
Noh Chung-Il
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 ¥â-blocker therapy the patient has remained symptom-free for three and a half years.
KEYWORD
Congenital Long QT Syndrome, Deafness, Mutation
FullTexts / Linksout information
  
Listed journal information
SCI(E) MEDLINE ÇмúÁøÈïÀç´Ü(KCI) KoreaMed ´ëÇÑÀÇÇÐȸ ȸ¿ø