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Mol Genet Metab Rep. 2015 Apr 13;3:47-54. doi: 10.1016/j.ymgmr.2015.03.007. eCollection 2015 Jun.

An uncommon clinical presentation of relapsing dilated cardiomyopathy with identification of sequence variations in MYNPC3, KCNH2 and mitochondrial tRNA cysteine.

Author information

1
Medical Genetics Training Program, National Human Genome Research Institute, National Institutes of Health, 35 Convent Drive, MSC 3717 Room 1B207, Bethesda, MD 20892-3717, USA.
2
Division of Genetics and Metabolism, Children's National Medical Center, 111 Michigan Avenue, N.W., Washington D.C. 20010, USA.
3
Department of Cardiology, Children's National Medical Center, 111 Michigan Avenue, N.W., Washington D.C. 20010, USA.

Abstract

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.

KEYWORDS:

Dilated cardiomyopathy; Hearing loss; Long QT; Mitochondrial; Sensorineural hearing loss; Whole exome sequencing

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