Application of Multigene Panel Sequencing in Patients with Prolonged Rate-corrected QT Interval and No Pathogenic Variants Detected in KCNQ1, KCNH2, and SCN5A
Annals of Laboratory Medicine
; : 54-58, 2018.
Article
ي En
| WPRIM
| ID: wpr-739103
المكتبة المسؤولة:
WPRO
ABSTRACT
Long QT syndrome (LQTS) is an inherited cardiac disease characterized by a prolonged heart rate-corrected QT (QTc) interval. We investigated the genetic causes in patients with prolonged QTc intervals who were negative for pathogenic variants in three major LQTS-related genes (KCNQ1, KCNH2, and SCN5A). Molecular genetic testing was performed using a panel including 13 LQTS-related genes and 67 additional genes implicated in other cardiac diseases. Overall, putative genetic causes of prolonged QTc interval were identified in three of the 30 patients (10%). Among the LQTS-related genes, we detected a previously reported pathogenic variant, CACNA1C c.1552C>T, responsible for cardiac-only Timothy syndrome. Among the genes related to other cardiac diseases, a likely pathogenic variant, RYR2 c.11995A>G, was identified in a patient with catecholaminergic polymorphic ventricular tachycardia. Another patient who developed dilated cardiomyopathy with prolonged QTc interval was found to carry a likely pathogenic variant, TAZ c.718G>A, associated with infantile dilated cardiomyopathy. Comprehensive screening of genetic variants using multigene panel sequencing enables detection of genetic variants with a possible involvement in QTc interval prolongation, thus uncovering unknown molecular mechanisms underlying LQTS.
Key words
النص الكامل:
1
الفهرس:
WPRIM
الموضوع الرئيسي:
Long QT Syndrome
/
Cardiomyopathy, Dilated
/
Mass Screening
/
Tachycardia, Ventricular
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Ryanodine Receptor Calcium Release Channel
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Heart
/
Heart Diseases
/
Molecular Biology
نوع الدراسة:
Screening_studies
المحددات:
Humans
اللغة:
En
مجلة:
Annals of Laboratory Medicine
السنة:
2018
نوع:
Article