Forskning
Udskriv Udskriv
Switch language
Rigshospitalet - en del af Københavns Universitetshospital
Udgivet

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

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

  1. Clinical performance of implantable cardioverter-defibrillator lead monitoring diagnostics

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Fascicular heart blocks and risk of adverse cardiovascular outcomes: results from a large primary care population

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Nationwide burden of sudden cardiac death: A study of 54,028 deaths in Denmark

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Long QT syndrome type 1 and 2 patients respond differently to arrhythmic triggers: The TriQarr in vivo study

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Randomized Controlled Trial of Tesomet for Weight Loss in Hypothalamic Obesity

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Genome-wide association study reveals novel genetic loci: a new polygenic risk score for mitral valve prolapse

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Severity of congenital long QT syndrome disease manifestation and risk of depression, anxiety, and mortality: a nationwide study

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Electrocardiographic Findings, Arrhythmias, and Left Ventricular Involvement in Familial ST-Depression Syndrome

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vis graf over relationer

BACKGROUND: 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.

OBJECTIVE: The purpose of this study was to investigate the role of the sodium current complex in a nonreferred nationwide cohort of SIDS cases.

METHODS: 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.

RESULTS: 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 significance) were present in the same infant. Functional analysis of variants not previously characterized (R458C, S1609L, and Q1909R in SCN5A) predominantly revealed increased transient and sustained sodium current.

CONCLUSION: In a nonreferred nationwide Danish cohort of SIDS cases, up to 5/66 (7.5%) of SIDS cases can be explained by genetic variants in the sodium channel complex genes.

OriginalsprogEngelsk
TidsskriftHeart rhythm : the official journal of the Heart Rhythm Society
Vol/bind12
Udgave nummer6
Sider (fra-til)1241-9
Antal sider9
ISSN1547-5271
DOI
StatusUdgivet - jun. 2015

ID: 46194904