Why the study?
Does a custom DNA resequencing array effectively detect pathogenic genetic variants in patients with hypertrophic cardiomyopathy?
Population
122 unrelated patients with hypertrophic cardiomyopathy (HCM)
Design
Cross-sectional
Key result
A custom DNA resequencing array identified known or novel potentially pathogenic heterozygous single-nucleotide variants in 31% of unrelated patients with hypertrophic cardiomyopathy.
Authors
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Should not yet change HCM genetic testing practice; leaves open array utility pending prospective validation.
Observational (n=122)
Does a custom DNA resequencing array effectively detect pathogenic genetic variants in patients with hypertrophic cardiomyopathy?
A custom DNA resequencing array provides a rapid and efficient method for first-tier mutation screening in hypertrophic cardiomyopathy, detecting potentially pathogenic variants in 31% of patients.
Fokstuen et al. (2011) conducted an observational in Hypertrophic cardiomyopathy (n=122). Custom DNA resequencing array was evaluated on Identification of known or novel potentially pathogenic heterozygous single-nucleotide variants. A custom DNA resequencing array identified known or novel potentially pathogenic heterozygous single-nucleotide variants in 31% of unrelated patients with hypertrophic cardiomyopathy.