A Novel Mutation in the LMNA Gene-Associated Hereditary Atrioventricular Block

Liangliang Zhang1#, Jiao Tang1#, Guodu Liu1#, Maohuan Lin2, Xiaoqin Xiao3, Xin Chen1, Feng Wang1, Chen Xie1*, Huanji Zhang

1Department of Cardiovascular Medicine, The Eighth Affiliated Hospital of Sun Yat-sen University, Shenzhen, China 2Department of Cardiovascular Medicine, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, China 3Center for Molecular Diagnostics, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, China #Authors contributed equally

^*Correspondance to: Chen Xie 

 PDF  Full Text Case Report | Open Access

Abstract:

Background: Abnormalities in the cardiac conduction system can lead to various cardiac conduction disorders, including atrioventricular block (AVB). AVB can be classified as hereditary or secondary based on its etiology. Despite advancements in gene sequencing, the pathogenic genes and mutation sites underlying inherited AVB require further exploration. Results: Our investigation identified a novel mutation (NM_ 170707: c.1609-1G>C) within the LMNA gene in the proband (IL-2), which is absent in healthy family members. Protein electrophoresis and cDNA sequencing indicated that this mutation alters the splicing pattern of the LMNA gene, potentially leading to exon 10 skipping. Conclusion: We have discovered a novel mutation site (NM_170707.4: c.1609-1G>C) within the LMNA gene that is closely associated with AVB occurrence among members of a family lineage. The findings underscore the importance of genetic factors in AVB pathogenesis.

Keywords:

Atrioventricular block, LMNA gene, Whole-exome sequencing, Lineage survey

Cite the Article:

Zhang L, Tang J, Liu G, Lin M, Xiao X, Chen X, et al. A Novel Mutation in the LMNA Gene-Associated Hereditary Atrioventricular Block. Ann Clin Case Rep. 2025; 10: 2745. ISSN: 2474-1655..