ArticleJournal of clinical laboratory analysis2021
A splicing LMNA mutation causing laminopathies accompanied by aortic valve malformation.
Article in Journal of clinical laboratory analysis, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 4 citations in OpenAlex.
- Co-morbid monogenic disorders at chromosome region 1q2: LMNA- and FLG-related disorders in a patient referred for assessment of joint hypermobility.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2025Article
- The Influence of a Genetic Variant inInternational journal of molecular sciences · 2024Article
- Identification of a compound heterozygous missense mutation in LAMA2 gene from a patient with merosin-deficient congenital muscular dystrophy type 1A.Journal of clinical laboratory analysis · 2021Article
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Authors and funding
5 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundLaminopathies 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.
conclusionsThe 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.
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