Key result
WES and mitochondrial DNA analysis identify potentially causative genetic variants in a pediatric DCM case.
Why the study?
In cases where targeted sequencing fails to explain complex clinical presentations, whole exome sequencing can help identify potentially causative genetic variants.
Does whole exome sequencing identify causative variants in a patient with complex cardiomyopathy and long QT syndrome when targeted sequencing fails?
Case Report (n=1)
Does whole exome sequencing identify causative variants in a patient with complex cardiomyopathy and long QT syndrome when targeted sequencing fails?
Whole exome sequencing can identify complex underlying genetic etiologies in patients with atypical or relapsing cardiomyopathy when targeted sequencing fails.
Answers are grounded in this paper and cite their sources.
Warrants cautious variant interpretation in pediatric cardiomyopathy; leaves open causality of combined KCNH2 and mt-tRNA changes pending validation.
We describe a young girl with dilated cardiomyopathy, long QT syndrome, and possible energy deficiency. Two major sequence changes were identified by whole exome sequencing (WES) and mitochondrial DNA analysis that were interpreted as potentially causative. Changes were identified in the KCNH2 gene and mitochondrial tRNA for cysteine. A variation was also seen in MYPBC3. Since the launch of WES as a clinically available technology in 2010, there has been concern regarding the identification of variants unrelated to the patient's phenotype. However, in cases where targeted sequencing fails to explain the clinical presentation, the underlying etiology could be more complex than anticipated. In this situation, the extensive reach of this tool helped explain both her phenotype and family history.
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Sacoto et al. (2015) conducted a case report in Dilated cardiomyopathy, long QT syndrome, and possible energy deficiency (n=1). Whole exome sequencing (WES) and mitochondrial DNA analysis was evaluated on Identification of causative sequence variations. Whole exome sequencing and mitochondrial DNA analysis identified potentially causative sequence changes in KCNH2, mitochondrial tRNA for cysteine, and MYPBC3 in a girl with dilated cardiomyopathy.
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