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Whole-exome sequencing reveals a likely pathogenic LMNA variant causing hypertrophic cardiomyopathy

Mohammad Mahdavi1, Neda Mohsen-Pour2, Majid Maleki3

  • 1Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.

Laboratory Medicine
|May 29, 2023
PubMed

Insights

A genetic variant in the LMNA gene, c.1279C>T (p.Arg427Cys), was identified as the likely cause of hypertrophic cardiomyopathy (HCM) in an Iranian family. This finding highlights the role of LMNA variants in HCM and supports whole-exome sequencing for diagnosis.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology
  • Genetic Diseases

Background:

  • Hypertrophic cardiomyopathy (HCM) is a heterogeneous heart muscle disease.
  • Sarcomeric protein variants are the primary genetic cause of HCM.
  • Identifying pathogenic variants is crucial for patient and family management.

Purpose of the Study:

  • To investigate the clinical and molecular basis of hypertrophic cardiomyopathy (HCM) in a consanguineous Iranian family.
  • To identify the genetic cause of HCM within this family.

Main Methods:

  • Whole-exome sequencing (WES) was employed to identify genetic variants.
  • Polymerase chain reaction-based Sanger sequencing was used for segregation analysis.

Main Results:

  • A likely pathogenic missense variant, c.1279C>T (p.Arg427Cys), was identified in exon 7 of the LMNA gene.
  • This variant segregated with the hypertrophic cardiomyopathy (HCM) phenotype within the family.

Conclusions:

  • The LMNA gene variant c.1279C>T (p.Arg427Cys) is implicated as the cause of HCM in this family.
  • This study underscores the importance of identifying the genetic basis of HCM for understanding disease mechanisms and potential therapeutic targets.
  • The effectiveness of whole-exome sequencing (WES) as a first-tier screening tool for HCM in clinical settings is supported.
Abstract

Keywords:
LMNAgeneticheterogeneityhypertrophic cardiomyopathypathogenicwhole-exome sequencing

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