Genotype-Phenotype Correlation: A Triple DNA Mutational Event in a Boy Entering Sport Conveys an Additional Pathogenicity Risk.
Arrhythmogenic Right Ventricular Dysplasia
/ diagnosis
Child
Death, Sudden, Cardiac
/ prevention & control
Desmin
/ genetics
Diagnostic Screening Programs
Electrocardiography
Family Health
Genetic Association Studies
Genetic Counseling
Genetic Predisposition to Disease
Heart Function Tests
High-Throughput Nucleotide Sequencing
Humans
Male
Mutation
Physical Examination
Plakophilins
/ genetics
Prognosis
Risk
Youth Sports
gene mutations in athletes
genotype-phenotype correlation
next-generation sequencing
sports activities
sudden cardiac death
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
08 05 2020
08 05 2020
Historique:
received:
21
02
2020
revised:
28
04
2020
accepted:
06
05
2020
entrez:
14
5
2020
pubmed:
14
5
2020
medline:
25
3
2021
Statut:
epublish
Résumé
The purpose of this paper is to present a clinical and laboratory study of a family, in which a 12-year-old boy was examined to assess his health status before starting competitive sports. A variety of clinical and instrumental tests were used to evaluate the status of the heart and its functions. Using Sanger sequencing (SS), we sequenced six related genes to verify suspected arrhythmogenic right ventricular cardiomyopathy (ARVC) hypothesized at the cardiac assessment and, subsequently, by a next-generation sequencing (NGS)-based multi-gene panel for more paramount genetic risk of sudden cardiac death (SCD) assessment. SS revealed two variants in the
Identifiants
pubmed: 32397162
pii: genes11050524
doi: 10.3390/genes11050524
pmc: PMC7288460
pii:
doi:
Substances chimiques
Desmin
0
PKP2 protein, human
0
Plakophilins
0
Types de publication
Case Reports
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
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