心肌病
基因检测
医学
MYH7
人类遗传学
队列
遗传学
生物信息学
内科学
心力衰竭
生物
基因
基因亚型
作者
Alexandre Janin,Thomas Pérouse de Montclos,Karine Nguyen,Émilie Consolino,Gwenaël Nadeau,Gaelle Rey,Océane Bouchot,Patricia Blanchet,Quentin Sabbagh,Cécile Cazeneuve,Rajae El-Malti,Élodie Morel,Antoine Delinière,Philippe Chevalier,Gilles Millat
标识
DOI:10.1007/s40291-022-00604-3
摘要
Background and ObjectivePediatric cardiomyopathies are clinically heterogeneous heart muscle disorders associated with significant morbidity and mortality for which substantial evidence for a genetic contribution was previously reported. We present a detailed molecular investigation of a cohort of 231 patients presenting with primary cardiomyopathy below the age of 18 years.MethodsCases with pediatric cardiomyopathies were analyzed using a next-generation sequencing (NGS) workflow based on a virtual panel including 57 cardiomyopathy-related genes.ResultsThis molecular approach led to the identification of 69 cases (29.9% of the cohort) genotyped as a carrier of at least one pathogenic or likely pathogenic variant. Fourteen patients were carriers of two mutated alleles (homozygous or compound heterozygous) on the same cardiomyopathy-related gene, explaining the severe clinical disease with early-onset cardiomyopathy. Homozygous TNNI3 pathogenic variants were detected for five unrelated neonates (2.2% of the cohort), with four of them carrying the same truncating variant, i.e. p.Arg69Alafs*8.ConclusionsOur study confirmed the importance of genetic testing in pediatric cardiomyopathies. Discovery of novel pathogenic variations is crucial for clinical management of affected families, as a positive genetic result might be used by a prospective parent for prenatal genetic testing or in the process of pre-implantation genetic diagnosis.
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