Jervell and Lange-Nielsen Syndrome: Novel Compound Heterozygous Mutations in the KCNQ1 in a Korean Family.
10.3346/jkms.2010.25.10.1522
- Author:
Jae Suk BAEK
1
;
Eun Jung BAE
;
Sang Yun LEE
;
Sung Sup PARK
;
So Yeon KIM
;
Kyu Nam JUNG
;
Chung Il NOH
Author Information
1. Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea. eunjbae@plaza.snu.ac.kr
- Publication Type:Case Report
- Keywords:
Congenital Long QT Syndrome;
Deafness;
Mutation
- MeSH:
Asian Continental Ancestry Group/*genetics;
Child, Preschool;
Electrocardiography;
Exons;
Family;
Gene Deletion;
Heterozygote;
Humans;
Jervell-Lange Nielsen Syndrome/diagnosis/*genetics;
KCNQ1 Potassium Channel/*genetics;
Male;
Mutation;
Pedigree;
Republic of Korea
- From:Journal of Korean Medical Science
2010;25(10):1522-1525
- CountryRepublic of Korea
- Language:English
-
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 beta-blocker therapy the patient has remained symptom-free for three and a half years.
