RAF1 mutation leading to hypertrophic cardiomyopathy in a Chinese family with a history of sudden cardiac death: A diagnostic insight into Noonan syndrome

Background Hypertrophic cardiomyopathy (HCM) is predominantly caused by mutations in sarcomeric genes. However, a subset of cases is attributed to genetic disorders unrelated to sarcomeric genes, such as Noonan syndrome (NS) and other RASopathies. In this study, we present a family with a history of...

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Veröffentlicht in:	Molecular Genetics & Genomic Medicine 2024-01, Vol.12 (1), p.e2290-n/a
Hauptverfasser:	Zheng, Jingjing, Peng, Longyun, Cheng, Ruofei, Li, Zhiyan, Xie, Jianjie, Huang, Erwen, Cheng, Jianding, Zhao, Qianhao
Format:	Artikel
Sprache:	eng
Schlagworte:	Adults Autopsies Cardiac arrest Cardiology Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy, Hypertrophic - diagnosis Cardiomyopathy, Hypertrophic - genetics Cardiovascular disease China Congenital diseases Death, Sudden, Cardiac - etiology Development and progression Echocardiography Electrocardiography Families & family life Family Family medical history Flow velocity Genes Genetic aspects Genetic disorders Genetic diversity Genetic screening Genetic variance Genetics Genomics Heart Heart enlargement Humans hypertrophic cardiomyopathy Hypertrophy Kinases Mortality Mutation Neuromuscular diseases Noonan syndrome Noonan Syndrome - diagnosis Noonan Syndrome - genetics Noonan's syndrome Prenatal development Proto-Oncogene Proteins c-raf - genetics RAF1 gene RAS‐HCM Ventricle whole‐exome sequencing Young Adult Young adults
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