Key result
Whole exome sequencing identified damaging mutations in known HCM disease genes in 9.5% of sporadic hypertrophic cardiomyopathy patients previously negative for common sarcomere mutations.
Why the study?
Does whole exome sequencing identify novel pathogenic genes in sporadic hypertrophic cardiomyopathy patients negative for common sarcomere mutations?
Population
74 unrelated Chinese patients with sporadic hypertrophic cardiomyopathy previously determined to be negative…
Comparison
Whole exome sequencing combined with rare… vs 2,000 control exome data
Design
Cohort
Authors
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May support WES after negative sarcomere testing in sporadic HCM; hypothesis-generating without proven management impact.
Observational (n=74)
Yes
Does whole exome sequencing identify novel pathogenic genes in sporadic hypertrophic cardiomyopathy patients negative for common sarcomere mutations?
Whole exome sequencing identified novel putative genes and mutations in sporadic HCM patients without common sarcomere mutations, highlighting the role of sarcomere function, calcium signaling, and metabolism pathways.
Xu et al. (2015) conducted an observational in Sporadic Hypertrophic Cardiomyopathy (sHCM) (n=74). Whole Exome Sequencing (WES) vs. 2,000 in-house exome data controls (for TADA analysis) was evaluated on Presence of damaging mutations in known HCM disease genes. Whole exome sequencing identified damaging mutations in known HCM disease genes in 9.5% of sporadic hypertrophic cardiomyopathy patients previously negative for common sarcomere mutations.
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