Article
Early somatic mosaicism is a rare cause of long-QT syndrome.
Proceedings of the National Academy of Sciences of the United States of America - 11 Oct 2016
Priest James Rush, Gawad Charles, Kahlig Kristopher M, Yu Joseph K, O'Hara Thomas, Boyle Patrick M, Rajamani Sridharan, Clark Michael J, Garcia Sarah T K, Ceresnak Scott, Harris Jason, Boyle Sean, Dewey Frederick E, Malloy-Walton Lindsey, Dunn Kyla, Grove Megan, Perez Marco V, Neff Norma F, Chen Richard, Maeda Katsuhide, Dubin Anne, Belardinelli Luiz, West John, Antolik Christian, Macaya Daniela, Quertermous Thomas, Trayanova Natalia A, Quake Stephen R, Ashley Euan A
Abstract excerpt
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...
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