LBX1 突变与法洛四联症和肥厚型心肌病的新关联：对心脏发育的影响。
Novel association of LBX1 mutation with tetralogy of Fallot and hypertrophic cardiomyopathy: implications for cardiac development.
机构信息
Department of Thoracic Surgery, Children's Hospital of Chongqing Medical University, Chongqing, 400014, China.
National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Structural Birth Defect and Reconstruction, Chongqing, China.
出版信息
Sci Rep. 2024 Oct 30;14(1):26179. doi: 10.1038/s41598-024-77187-y.
BACKGROUND
Tetralogy of Fallot (TOF) and hypertrophic cardiomyopathy (HCM) are common types of congenital heart disease with unique pathophysiologic features. Mutations in LBX1, a key regulator of muscle precursor cell migration, may disrupt these critical developmental processes, resulting in severe developmental abnormalities.
CASE PRESENTATION
This case reports on a 4-year-old girl diagnosed with both TOF and HCM. Genetic analysis revealed iUPI-F (uniparental disomy) on the entire chromosome 10, with a c.808G > A (p. Glu270Lys) pure mutation in the LBX1.
CONCLUSION
This patient exhibited both TOF and HCM with mutations in the LBX1 gene, suggesting a potentially novel genetic link. This case study emphasizes the need for further studies on the function of the LBX1 gene in cardiac development and its potential impact on TOF and HCM.
背景
法洛四联症（TOF）和肥厚型心肌病（HCM）是常见的先天性心脏病类型，具有独特的病理生理特征。肌前体细胞迁移关键调节因子 LBX1 的突变可能破坏这些关键的发育过程，导致严重的发育异常。
病例介绍
本病例报告了一名 4 岁女孩，被诊断为同时患有 TOF 和 HCM。基因分析显示整条 10 号染色体存在单亲二体性（iUPI-F），LBX1 中存在纯合突变 c.808G > A（p.Glu270Lys）。
结论
该患者同时患有 TOF 和 HCM，且 LBX1 基因突变，提示可能存在新的遗传联系。本病例研究强调了进一步研究 LBX1 基因在心脏发育中的功能及其对 TOF 和 HCM 的潜在影响的必要性。
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