Jervell and Lange-Nielsen Syndrome: Novel Compound Heterozygous Mutations in the KCNQ1 in a Korean Family
Journal of Korean Medical Science
; : 1522-1525, 2010.
Article
in En
| WPRIM
| ID: wpr-14299
Responsible library:
WPRO
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.
Key words
Full text:
1
Database:
WPRIM
Main subject:
Pedigree
/
Family
/
Exons
/
Gene Deletion
/
Jervell-Lange Nielsen Syndrome
/
Asian People
/
Electrocardiography
/
KCNQ1 Potassium Channel
/
Republic of Korea
/
Heterozygote
Type of study:
Prognostic_studies
Limits:
Child, preschool
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
En
Journal:
Journal of Korean Medical Science
Year:
2010
Document type:
Article