Exome Sequencing and Genome-Wide Linkage Analysis in 17 Families Illustrate the Complex Contribution of TTN Truncating Variants to Dilated Cardiomyopathy
Population
48 individuals affected with familial dilated cardiomyopathy (DCM) from 17 families
Design
Other
Authors
Discussion
Loading...
Member takes
Implication
TTN truncating variants may contribute to familial DCM; incomplete segregation leaves pathogenicity assessment open for clinical genetic testing.
Structured PICO
P
Population
48 individuals affected with familial dilated cardiomyopathy (DCM) from 17 families
I
Intervention
Exome sequencing and genome-wide linkage analysis
O
Outcome
Identification of genetic cause (TTN truncating variants)
TTN truncating variants contribute to familial DCM, but incomplete segregation highlights the complexity of determining variant pathogenicity even with full exome sequencing.
Limitations
- Lack of segregation of all identified TTN truncating variants illustrates the challenge of determining variant pathogenicity even with full exome sequencing
Cite This Study
Norton et al. (2013) studied this question.