What is LMNA?
LMNA is a gene that encodes the Lamin A/C (Lamin A and Lamin C) proteins, which are intermediate filaments that provide stability and strength to cells. They are a principal component of structure and function. Mutations in this gene can disrupt the function of proteins, causing a variety of disease manifestations including cardiomyopathies and arrhythmias. While a lot of variants in LMNA can cause diseases, some don’t and we do not know all the things that cause it these disease presentations. We are establishing this registry to better understand the gene-disease associations.
What are laminopathies?
Laminopathies are a wide range of diseases that are caused by mutations in genes that code for Lamin proteins, such as LMNA. For example, LMNA variants have been linked with dilated cardiomyopathy (DCM) and other cardiomyopathies, arrhythmia predispositions, Emery-Dreifuss Muscular Dystrophy, Familial Partial Lipodystrophy (FPLD2), and Restrictive Dermopathy.
How do LMNA variants present in disease?
Numerous variants have been identified in LMNA. What makes some variants associated with disease, and others not, as well as how some variants lead to different disease expressions remain unknown.
Which diseases are associated with LMNA variants?
LMNA variants have been associated with diseases, such as dilated cardiomyopathy (DCM) and other cardiomyopathies, arrhythmia predispositions, Emery-Dreifuss Muscular Dystrophy, Familial Partial Lipodystrophy (FPLD2), and Restrictive Dermopathy.
