Article
Exploring the Familial Phenotypic Variability Associated With TTN Truncating Variants in Cardiomyopathies: Variant Spectrum, Genotype-Phenotype Correlation and Consequences in Genetic Counseling.
Clinical genetics - 1 Apr 2025
Massier Marie, de Groote Pascal, Donal Erwan, Magnin-Poull Isabelle, Coubes Christine, Le Guillou Horn Xavier, Rooryck Caroline, Réant Patricia, Troadec Yann, Bréhin Anne-Claire, Proukhnitzky Julie, Gandjbakhch Estelle, Charron Philippe, Richard Pascale, Ader Flavie
Abstract excerpt
Titin truncating variants (TTNtv) are the main genetic cause of dilated cardiomyopathies (DCMs). The phenotype and prognosis of probands have been evaluated in several large cohorts. However, few data are available on intrafamilial expressivity. To evaluate the phenotypical variability, we selected probands and family members carrying a unique TTN variant and recorded cardiac and genetic information. The cohort...
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