Mutations in the HERG K+-ion channel: a novel link between long QT syndrome and sudden infant death syndrome

Michael Christiansen; Niels Tønder; Lars A Larsen; Paal S Andersen; Henrik Simonsen; Nina Oyen; Jørgen K Kanters; Joes R Jacobsen; Inger Fosdal; Gøran Wettrell; Keld Kjeldsen

doi:10.1016/j.amjcard.2004.09.054

Mutations in the HERG K+-ion channel: a novel link between long QT syndrome and sudden infant death syndrome

Michael Christiansen, Niels Tønder, Lars A Larsen, Paal S Andersen, Henrik Simonsen, Nina Oyen, Jørgen K Kanters, Joes R Jacobsen, Inger Fosdal, Gøran Wettrell, Keld Kjeldsen

Kardiologisk, Nefrologisk og Endokrinologisk Afdeling

70 Citationer (Scopus)

Abstract

In a 7-week-old infant who experienced sudden infant death syndrome (SIDS), a novel missense mutation was identified in KCNH2, causing a lysine-to-glutamic acid amino acid substitution at position 101 (K101E). KCNH2 codes for the HERG ion channel and mutations in the gene are associated with congenital long-QT syndrome (LQTS), and in the family of this case of SIDS, the mutation was associated with Torsades de pointes tachycardia, making SIDS the most likely outcome of congenital LQTS.

Originalsprog	Engelsk
Tidsskrift	The American journal of cardiology
Vol/bind	95
Udgave nummer	3
Sider (fra-til)	433-4
Antal sider	2
ISSN	0002-9149
DOI	https://doi.org/10.1016/j.amjcard.2004.09.054
Status	Udgivet - 2005

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10.1016/j.amjcard.2004.09.054

Citationsformater

Christiansen, M., Tønder, N., Larsen, L. A., Andersen, P. S., Simonsen, H., Oyen, N., Kanters, J. K., Jacobsen, J. R., Fosdal, I., Wettrell, G., & Kjeldsen, K. (2005). Mutations in the HERG K+-ion channel: a novel link between long QT syndrome and sudden infant death syndrome. The American journal of cardiology, 95(3), 433-4. https://doi.org/10.1016/j.amjcard.2004.09.054

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title = "Mutations in the HERG K+-ion channel: a novel link between long QT syndrome and sudden infant death syndrome",

abstract = "In a 7-week-old infant who experienced sudden infant death syndrome (SIDS), a novel missense mutation was identified in KCNH2, causing a lysine-to-glutamic acid amino acid substitution at position 101 (K101E). KCNH2 codes for the HERG ion channel and mutations in the gene are associated with congenital long-QT syndrome (LQTS), and in the family of this case of SIDS, the mutation was associated with Torsades de pointes tachycardia, making SIDS the most likely outcome of congenital LQTS.",

keywords = "DNA-Binding Proteins/genetics, ERG1 Potassium Channel, Ether-A-Go-Go Potassium Channels, Humans, Infant, Long QT Syndrome/genetics, Mutation/genetics, Potassium Channels/genetics, Sudden Infant Death/genetics, Trans-Activators/genetics, Transcriptional Regulator ERG",

author = "Michael Christiansen and Niels T{\o}nder and Larsen, {Lars A} and Andersen, {Paal S} and Henrik Simonsen and Nina Oyen and Kanters, {J{\o}rgen K} and Jacobsen, {Joes R} and Inger Fosdal and G{\o}ran Wettrell and Keld Kjeldsen",

year = "2005",

doi = "10.1016/j.amjcard.2004.09.054",

language = "English",

volume = "95",

pages = "433--4",

journal = "The American journal of cardiology",

issn = "0002-9149",

publisher = "Excerpta Medica, Inc",

number = "3",

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TY - JOUR

T1 - Mutations in the HERG K+-ion channel

T2 - a novel link between long QT syndrome and sudden infant death syndrome

AU - Christiansen, Michael

AU - Tønder, Niels

AU - Larsen, Lars A

AU - Andersen, Paal S

AU - Simonsen, Henrik

AU - Oyen, Nina

AU - Kanters, Jørgen K

AU - Jacobsen, Joes R

AU - Fosdal, Inger

AU - Wettrell, Gøran

AU - Kjeldsen, Keld

PY - 2005

Y1 - 2005

N2 - In a 7-week-old infant who experienced sudden infant death syndrome (SIDS), a novel missense mutation was identified in KCNH2, causing a lysine-to-glutamic acid amino acid substitution at position 101 (K101E). KCNH2 codes for the HERG ion channel and mutations in the gene are associated with congenital long-QT syndrome (LQTS), and in the family of this case of SIDS, the mutation was associated with Torsades de pointes tachycardia, making SIDS the most likely outcome of congenital LQTS.

AB - In a 7-week-old infant who experienced sudden infant death syndrome (SIDS), a novel missense mutation was identified in KCNH2, causing a lysine-to-glutamic acid amino acid substitution at position 101 (K101E). KCNH2 codes for the HERG ion channel and mutations in the gene are associated with congenital long-QT syndrome (LQTS), and in the family of this case of SIDS, the mutation was associated with Torsades de pointes tachycardia, making SIDS the most likely outcome of congenital LQTS.

KW - DNA-Binding Proteins/genetics

KW - ERG1 Potassium Channel

KW - Ether-A-Go-Go Potassium Channels

KW - Humans

KW - Infant

KW - Long QT Syndrome/genetics

KW - Mutation/genetics

KW - Potassium Channels/genetics

KW - Sudden Infant Death/genetics

KW - Trans-Activators/genetics

KW - Transcriptional Regulator ERG

U2 - 10.1016/j.amjcard.2004.09.054

DO - 10.1016/j.amjcard.2004.09.054

M3 - Journal article

C2 - 15670565

SN - 0002-9149

VL - 95

SP - 433

EP - 434

JO - The American journal of cardiology

JF - The American journal of cardiology

IS - 3

ER -

Mutations in the HERG K+-ion channel: a novel link between long QT syndrome and sudden infant death syndrome

Abstract

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