Document Type
Journal Article
Publication Date
6-2015
Journal
Molecular Genetics and Metabolism Reports
Volume
Volume 3
Inclusive Pages
47-54
DOI
10.1016/j.ymgmr.2015.03.007
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.
Creative Commons License
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 4.0 License.
APA Citation
Guillen Sacoto, M.J., Chapman, K.A., Heath, D., Seprish, M.B., Zand, D.J. (2015). An uncommon clinical presentation of relapsing dilated cardiomyopathy with identification of sequence variations in MYNPC3, KCNH2 and mitochondrial tRNA cysteine. Molecular Genetics and Metabolism Reports, 3, 47-54. doi:10.1016/j.ymgmr.2015.03.007
Peer Reviewed
1
Open Access
1
Comments
Reproduced with permission of Elsevier B.V. Molecular Genetics and Metabolism Reports.