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- W2029141882 abstract "truncating Titin (TTN) mutations are present in 25% of familial DCM cases; however, it is unclear whether they are sufficient to cause disease or modify disease susceptibility. The aim of this study was to investigate the prevalence of TTN mutations in an Australian DCM cohort. Targeted re-sequencing of 69 cardiomyopathy genes was conducted on DNA from 60 probands with familial DCM. Truncating TTN mutations were identified in 18 probands (30%) and detailed analysis of genotype-phenotype correlation was performed in six of these families. There was good correlation between truncating TTNmutations and disease in three families with TTN mutations present in all the affected and none of the unaffected family members tested. In the remaining three families, six individualswith TTNmutations but normal echocardiograms were identified. However, these individuals were all younger than 50 years of age at testing suggesting the possibility of age-dependent penetrance. Varying age of diagnosis and disease severity suggest the involvement of additional genetic or acquired factors in at least one family. Truncating TTN mutations are present in a significant proportion of our familial DCM cases. However, further work is required to classify the segregation of these mutations with disease in larger cohorts. Inclusion of TTN in genetic screening should improve the yield from genetic testing to greater than 50% and may potentially improve the management and treatment for these families." @default.
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- W2029141882 date "2014-01-01" @default.
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- W2029141882 title "Use of a murine Advanced Intercross Line combined with whole genome sequencing and transcriptome analysis confirms previously discovered QTL and identifies candidate genetic loci for cardiac atrial septal morphology" @default.
- W2029141882 doi "https://doi.org/10.1016/j.hlc.2014.07.031" @default.
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