The role of the sodium current complex in a nonreferred nationwide cohort of sudden infant death syndrome

Heart Rhythm : the Official Journal of the Heart Rhythm Society
Bo Gregers WinkelThomas Jespersen

Abstract

Sudden infant death syndrome (SIDS) is the most common cause of death in infants between the age of 1 month and 1 year. Rare variants in Nav1.5 encoded by SCN5A are known to play a role in SIDS; however, the combined role of the sodium current complex is unknown. The purpose of this study was to investigate the role of the sodium current complex in a nonreferred nationwide cohort of SIDS cases. DNA was extracted from dried blood spot samples from the Danish Neonatal Screening Biobank. In total, 66 non-referred SIDS cases born in Denmark in the period of 2000-2006 were screened for genetic variants in the 8 major genes involved in the regulation of the Nav1.5 channel complex: SCN5A, SCN1B, SCN2B, SCN3B, SCN4B, GPD1L, SNTA1, and CAV3. Patch-clamp analyses were performed on variants not previously characterized. In total, 8 patients (12%) had nonsynonymous rare variants in the sodium current genes. SCN5A harbored 6 rare variants (R458C, R535*, S1103Y, R1193Q, S1609L, and Q1909R); CAV3, 1 rare variant (T78M); GPD1L, 1 rare variant (R220H); and SCN3B, 1 rare variant (L10P). Four variants were considered likely pathogenic and 5 variants of unknown significance. SCN5A R1193Q and GPD1L R220H (both considered variants of unknown signifi...Continue Reading

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Citations

Mar 25, 2018·Pacing and Clinical Electrophysiology : PACE·Federico DentiNicole Schmitt
Sep 8, 2017·Nature Reviews. Cardiology·Alban-Elouen BaruteauElijah R Behr
May 26, 2020·Molecular Genetics & Genomic Medicine·Anne M RochtusAnnapurna H Poduri
Jan 15, 2017·The Journal of General Physiology·Haidun YanGeoffrey S Pitt
Jul 25, 2019·BMC Cardiovascular Disorders·Hariharan RajuElijah R Behr
Dec 13, 2016·Pediatrics·Rachel Y Moon, UNKNOWN TASK FORCE ON SUDDEN INFANT DEATH SYNDROME

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