Format

Send to

Choose Destination
Proc Natl Acad Sci U S A. 2016 Oct 11;113(41):11555-11560. Epub 2016 Sep 28.

Early somatic mosaicism is a rare cause of long-QT syndrome.

Author information

1
Stanford Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, Stanford, CA 94305; Child Health Research Institute, Stanford University School of Medicine, Stanford, CA 94305; Division of Pediatric Cardiology, Stanford University School of Medicine, Stanford, CA 94305.
2
Child Health Research Institute, Stanford University School of Medicine, Stanford, CA 94305; Division of Pediatric Hematology-Oncology, Stanford University School of Medicine, Stanford, CA 94305.
3
Department of Biology, Cardiovascular Therapeutic Area, Gilead Sciences, Fremont, CA 94555.
4
Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD 21218; Institute for Computational Medicine, Johns Hopkins University, Baltimore, MD 21218.
5
Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD 21218.
6
Personalis, Inc., Menlo Park, CA 94025.
7
Stanford Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, Stanford, CA 94305; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA 94305.
8
Stanford Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, Stanford, CA 94305; Lucile Packard Children's Hospital Heart Center, Palo Alto, CA 94304.
9
Department of Bioengineering, Stanford University School of Medicine, Stanford, CA 94305.
10
Stanford Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, Stanford, CA 94305; Division of Cardiothoracic Surgery, Stanford University School of Medicine, Stanford, CA 94305.
11
Cardiogenetic Testing Services, GeneDx, Gaithersburg, MD 20877.
12
Department of Bioengineering, Stanford University School of Medicine, Stanford, CA 94305; Department of Applied Physics, Stanford University, Stanford, CA 94305; Howard Hughes Medical Research Institute, Stanford University School of Medicine, Stanford, CA 94305 euan@stanford.edu quake@stanford.edu.
13
Stanford Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, Stanford, CA 94305; Child Health Research Institute, Stanford University School of Medicine, Stanford, CA 94305; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA 94305; euan@stanford.edu quake@stanford.edu.

Abstract

Somatic mosaicism, the occurrence and propagation of genetic variation in cell lineages after fertilization, is increasingly recognized to play a causal role in a variety of human diseases. We investigated the case of life-threatening arrhythmia in a 10-day-old infant with long QT syndrome (LQTS). Rapid genome sequencing suggested a variant in the sodium channel NaV1.5 encoded by SCN5A, NM_000335:c.5284G > T predicting p.(V1762L), but read depth was insufficient to be diagnostic. Exome sequencing of the trio confirmed read ratios inconsistent with Mendelian inheritance only in the proband. Genotyping of single circulating leukocytes demonstrated the mutation in the genomes of 8% of patient cells, and RNA sequencing of cardiac tissue from the infant confirmed the expression of the mutant allele at mosaic ratios. Heterologous expression of the mutant channel revealed significantly delayed sodium current with a dominant negative effect. To investigate the mechanism by which mosaicism might cause arrhythmia, we built a finite element simulation model incorporating Purkinje fiber activation. This model confirmed the pathogenic consequences of cardiac cellular mosaicism and, under the presenting conditions of this case, recapitulated 2:1 AV block and arrhythmia. To investigate the extent to which mosaicism might explain undiagnosed arrhythmia, we studied 7,500 affected probands undergoing commercial gene-panel testing. Four individuals with pathogenic variants arising from early somatic mutation events were found. Here we establish cardiac mosaicism as a causal mechanism for LQTS and present methods by which the general phenomenon, likely to be relevant for all genetic diseases, can be detected through single-cell analysis and next-generation sequencing.

KEYWORDS:

arrhythmia; computational modeling; genomics; mosaicism; single cell

PMID:
27681629
PMCID:
PMC5068256
DOI:
10.1073/pnas.1607187113
[Indexed for MEDLINE]
Free PMC Article

Conflict of interest statement

At the time of this work K.M.K., S.R., and L.B. were employed by Gilead Sciences. M.J.C., S.T.K.G., S.B., J.W., and R.C. were employed by Personalis, Inc. J.W. and E.A.A. are founders of Personalis, Inc. which offers clinical genetic testing but does not offer Clinical Laboratory Improvement Amendments (CLIA)-certified rapid-turnaround whole-genome sequencing. N.A.T. is a co-founder of CardioSolv LLC.

Supplemental Content

Full text links

Icon for HighWire Icon for PubMed Central
Loading ...
Support Center