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A novel PKP2 mutation and intrafamilial phenotypic variability in ARVC/D

Nejat Mahdieh1,2, Sedigheh Saedi1,2, Mahdieh Soveizi1

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

Medical Journal of the Islamic Republic of Iran
|July 7, 2018
PubMed

Insights

A novel PKP2 gene mutation causes Arrhythmogenic Ventricular Cardiomyopathy (ARVC), but modifier genes may explain why only one family member developed the disease. This highlights genetic factors influencing ARVC presentation.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Arrhythmogenic Ventricular Cardiomyopathy (ARVC) is an inherited heart condition affecting 1 in 1000 globally.
  • The average age of ARVC diagnosis is 31 years.
  • This study investigates an Iranian family with ARVC linked to a new PKP2 mutation.

Purpose of the Study:

  • To identify the genetic cause of ARVC in an Iranian family.
  • To investigate the basis for intrafamilial phenotypic variability in ARVC.

Main Methods:

  • Clinical assessments including ECG and CMR.
  • Genetic testing (PCR-sequencing) to identify mutations.
  • Segregation analysis and interactome analysis of PKP2.

Main Results:

  • A novel PKP2 mutation (p.Tyr168Ter) was identified in the family.
  • The mutation was inherited from mother to son, but only the son exhibited ARVC.
  • Interactome analysis suggested modifier genes influencing PKP2 function.

Conclusions:

  • A novel PKP2 mutation is implicated in ARVC in this population.
  • Modifier genes likely contribute to the varying disease presentation within the family.
  • Nonsense-mediated mRNA decay is a potential mechanism for phenotypic variability.

Keywords:
ARVC/DPKP2 genePhenotypic variability

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