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Updated: Aug 19, 2025

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Case Report: Novel LIM domain-binding protein 3 (LDB3) mutations associated with hypertrophic cardiomyopathy family

Junmin Zheng1, Zhuangzhuang Huang1, Shan Hou1

  • 1Department of Cardiology, Shanghai Children's Hospital, School of medicine, Shanghai Jiao Tong University, Shanghai, China.

Frontiers in Pediatrics
|December 1, 2022
PubMed

Insights

Mutations in the LDB3 gene are linked to hypertrophic cardiomyopathy (HCM), a common cause of cardiac arrest in children. This study identifies specific LDB3 variants that decrease protein stability, suggesting a new genetic cause for heritable HCM.

Area of Science:

  • Genetics
  • Cardiology
  • Molecular Biology

Background:

  • Hypertrophic cardiomyopathy (HCM) is a leading cause of sudden cardiac arrest in pediatric populations.
  • It is an autosomal dominant condition often linked to sarcomeric gene mutations.
  • Diagnosis involves echocardiographic evidence of ventricular hypertrophy without abnormal loading conditions.

Observation:

  • Whole exome sequencing (WES) was employed to identify genetic causes of HCM.
  • Specific LIM domain-binding protein 3 (LDB3) mutations (R547Q and P323S) were identified in two pediatric HCM patients.
  • These mutations were found in heterozygous form.

Findings:

  • Computational analyses predicted that the identified LDB3 mutations (R547Q and P323S) significantly reduce protein stability.
  • The STRUM server corroborated the destabilizing effect of these LDB3 variants.
  • This is the first report linking heterozygous LDB3 variants to heritable HCM.

Implications:

  • LDB3 mutations represent a novel genetic factor contributing to heritable hypertrophic cardiomyopathy.
  • Understanding the role of LDB3 in HCM pathogenesis may open new avenues for diagnosis and therapeutic strategies.
  • Further research into LDB3's function in cardiac muscle is warranted to elucidate its precise role in HCM.

Keywords:
LIM domain-binding protein 3gene mutationhypertrophic cardiomyopathyprotein stabilitywhole exome sequencing

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