PUBLICATION
Early onset atrial lesions in a patient with a novel LMNA frameshift mutation
- Authors
- Lin, Y., Liu, H., Cui, C., Lin, Z., Zhang, Y., Zhu, Y., Ju, W., Chen, M.
- ID
- ZDB-PUB-210710-5
- Date
- 2021
- Source
- Human molecular genetics 30(23): 2255-2262 (Journal)
- Registered Authors
- Chen, Minglong, Cui, Chang, Lin, Yongping, Zhang, Yike, Zhu, Yue
- Keywords
- none
- MeSH Terms
-
- Animals
- Echocardiography
- Pedigree
- Exome Sequencing
- Frameshift Mutation*
- Humans
- Heart Atria/metabolism*
- Heart Atria/physiopathology*
- Heart Diseases/diagnosis*
- Heart Diseases/etiology*
- Zebrafish
- Lamin Type A/genetics*
- Genetic Association Studies
- Electrocardiography
- Adult
- Genetic Predisposition to Disease
- DNA Mutational Analysis
- Disease Models, Animal
- PubMed
- 34240207 Full text @ Hum. Mol. Genet.
Citation
Lin, Y., Liu, H., Cui, C., Lin, Z., Zhang, Y., Zhu, Y., Ju, W., Chen, M. (2021) Early onset atrial lesions in a patient with a novel LMNA frameshift mutation. Human molecular genetics. 30(23):2255-2262.
Abstract
Genetic mutations in the lamin A/C gene (LMNA) have been linked to cardiomyopathy. Different mutational sites exhibit different clinical manifestations and prognoses. Herein, we identified a novel LMNA frameshift mutation, p.P485Tfs*67, from a patient with early-onset atrial disease. To verify the pathogenicity of this variation, a transgenic zebrafish model was constructed, which demonstrated that adult zebrafish with the LMNA mutation showed an abnormal ECG and impaired myocardial structure. Our study suggests the atrial pathogenicity of the LMNA-P485Tfs mutation, which is helpful to understand the function of the Ig-like domain of lamin A/C.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping