A splicing LMNA mutation causing laminopathies accompanied by aortic valve malformation

• Published in: Journal of clinical laboratory analysis 2021-04, Vol.35 (4), p.e23736-n/a
• Main Authors: Tao, Jingwen, Duan, Jialin, Pi, Xiu, Wang, Hong, Li, Sheng
• Format: Article
• Language: English
• Subjects: Age; Alternative splicing; Aortic valve; aortic valve malformation; Cardiac arrhythmia; cardiac conduction defect; Cardiomyopathy; Chromosomes; Congenital diseases; Dilated cardiomyopathy; Dysphagia; Edema; Electrocardiography; Emery–Dreifuss muscular dystrophy; Genetic analysis; Heart; Heart failure; Hospitals; Kinases; LMNA mutation; Magnetic resonance imaging; Medical prognosis; Muscular dystrophy; Mutation; Pacemakers; Patients; Peptides; Phenotypes; Progressive cardiac conduction defect; Scoliosis
• ISSN: 0887-8013; 1098-2825
• DOI: 10.1002/jcla.23736

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. A de novo heterozygous LMNA mutation (c.810+1G>T) was first formally identified in a pedigree. The congenital aortic valve malformation was first reported in patients with LMNA mutations.