A rare form of LIM domain-binding protein 3 (LDB3) mutation causes hypertrophic cardiomyopathy and myofibrillar myopathy type 4

Clin Genet. 2024 Nov;106(5):659-660. doi: 10.1111/cge.14585. Epub 2024 Jul 11.

Abstract

Polymorphisms in LDB3 gene can cause various forms of cardiomyopathy and myofibrillar myopathy 4 (MM4). Patient described in this study presented with a hypertrophic cardiomyopathy (HCM) and distal myopathy suggestive of myofibrillar myopathy 4. Genetic analysis using the TruSight Cardio Sequencing Kit (Illumina) revealed suspected LDB3 variant (c.1435G>A, p.(Gly479Arg)). This is the first case in which polymorphism in LDB3 gene is likely responsible for MM4 and HCM in the same patient.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Adult
  • Cardiomyopathy, Hypertrophic* / genetics
  • Cardiomyopathy, Hypertrophic* / pathology
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • LIM Domain Proteins* / genetics
  • Male
  • Mutation*
  • Myopathies, Structural, Congenital* / genetics
  • Myopathies, Structural, Congenital* / pathology

Substances

  • LIM Domain Proteins
  • LDB3 protein, human
  • Adaptor Proteins, Signal Transducing

Supplementary concepts

  • Myofibrillar Myopathy