Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants.
genetics
pathogenicity
short QT syndrome
sudden cardiac death
Journal
Journal of clinical medicine
ISSN: 2077-0383
Titre abrégé: J Clin Med
Pays: Switzerland
ID NLM: 101606588
Informations de publication
Date de publication:
16 Jul 2019
16 Jul 2019
Historique:
received:
08
06
2019
revised:
08
07
2019
accepted:
11
07
2019
entrez:
19
7
2019
pubmed:
19
7
2019
medline:
19
7
2019
Statut:
epublish
Résumé
Short QT syndrome, one of the most lethal entities associated with sudden cardiac death, is a rare genetic disease characterized by short QT intervals detected by electrocardiogram. Several genetic variants are causally linked to the disease, but there has yet to be a comprehensive analysis of variants among patients with short QT syndrome. To fill this gap, we performed an exhaustive study of variants currently catalogued as deleterious in short QT syndrome according to the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Analysis of the 32 variants described in the literature determined that only nine (28.12%) have a conclusive pathogenic role. All definitively pathogenic variants are located in
Identifiants
pubmed: 31315195
pii: jcm8071035
doi: 10.3390/jcm8071035
pmc: PMC6678338
pii:
doi:
Types de publication
Journal Article
Langues
eng
Subventions
Organisme : "la Caixa" Foundation
ID : ID 100010434
Organisme : Instituto de Salud Carlos III
ID : FIS PI14/01773 and PI17/01690
Organisme : Fundació Privada Daniel Bravo Andreu
ID : FDBA2015
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