A splicing LMNA mutation causing laminopathies accompanied by aortic valve malformation

• Main Authors: Duan, J. (Author), Li, S. (Author), Pi, X. (Author), Tao, J. (Author), Wang, H. (Author)
• Format: Article
• Language: English
• Published: John Wiley and Sons Inc 2021
• Subjects: adult; Adult; aorta anomaly; aortic regurgitation; aortic valve; Aortic Valve; aortic valve malformation; Article; atrioventricular block; Base Sequence; brain natriuretic peptide; cardiac conduction defect; cardiac troponin 1 CLIA; cardiomegaly; cardiomyopathy; cardiotonic agent; cardiovascular magnetic resonance; cardiovascular malformation; case report; chromosome identification; clinical article; congestive cardiomyopathy; creatine kinase; diagnostic imaging; dilated cardiomyopathy; disease severity; diuretic agent; dysphagia; dyspnea; electrocardiogram; Emery Dreifuss muscular dystrophy; Emery–Dreifuss muscular dystrophy; fatigue; gait disorder; gene; gene mutation; genetic analysis; genetic screening; genetic variability; genetics; genomic DNA; heart arrhythmia; heart dilatation; heart edema; heart failure; heart left ventricle function; heart muscle fibrosis; heart palpitation; Holter monitoring; hospital admission; hospital discharge; hospitalization; human; Humans; informed consent; joint contracture; lamin A; Lamin Type A; Laminopathies; laminopathy; LMNA gene; LMNA mutation; LMNA protein, human; Magnetic Resonance Imaging; male; Male; missense mutation; muscle weakness; muscular dystrophy; mutation; Mutation; nuclear magnetic resonance imaging; nucleotide sequence; nutrition supplement; pathophysiology; physical examination; progressive cardiac conduction defect; RNA splicing; scoliosis; systolic heart murmur; troponin I; underweight; Ventricular Function, Left
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 Background: Laminopathies caused by LMNA gene mutations are characterized by different clinical manifestations. Among them, cardiac involvement is one of the most severe phenotypes. Case presentation: A 30-year-old man visited the hospital because of palpitations, shortness of breath, and fatigue. He also had muscular dystrophy, joint contractures, scoliosis, and mild dysphagia. A novel de novo heterozygous LMNA splice variant (c.810+1G>T) with dilated cardiomyopathy, Emery–Dreifuss muscular dystrophy, and progressive cardiac conduction defect was identified by genetic analysis. The patient also presented with congenital aortic valve malformation, which has never been reported in laminopathies. Conclusions: The LMNA mutation (c.810+1G>T) was identified for the first time, enriching the mutation spectrum of the LMNA gene. The correlation between an LMNA mutation and congenital aortic valve malformation deserves further study. © 2021 The Authors. Journal of Clinical Laboratory Analysis published by Wiley Periodicals LLC