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
de En
| WPRIM
| ID: wpr-739103
Bibliothèque responsable:
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.
Mots clés
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Syndrome du QT long
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Cardiomyopathie dilatée
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Dépistage de masse
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Tachycardie ventriculaire
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Canal de libération du calcium du récepteur à la ryanodine
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Coeur
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Cardiopathies
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Biologie moléculaire
Type d'étude:
Screening_studies
Limites du sujet:
Humans
langue:
En
Texte intégral:
Annals of Laboratory Medicine
Année:
2018
Type:
Article