Mutations in the HERG K+-ion channel: a novel link between long QT syndrome and sudden infant death syndrome.
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.
Christiansen
Michael
M
Department of Clinical Biochemistry, Statens Serum Institut, Copenhagen, Denmark. mic@ssi.dk
Tønder
Niels
N
Larsen
Lars A
LA
Andersen
Paal S
PS
Simonsen
Henrik
H
Oyen
Nina
N
Kanters
Jørgen K
JK
Jacobsen
Joes R
JR
Fosdal
Inger
I
Wettrell
Gøran
G
Kjeldsen
Keld
K
D004268:DNA-Binding Proteins / Q000235:genetics*; D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels; D006801:Humans; D007223:Infant; D008133:Long QT Syndrome / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D015221:Potassium Channels / Q000235:genetics*; D013398:Sudden Infant Death / Q000235:genetics*; D015534:Trans-Activators / Q000235:genetics*; D000071230:Transcriptional Regulator ERG
D004268:DNA-Binding Proteins; C072312:ERG protein, human; D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels; C000606913:KCNH2 protein, human; D015221:Potassium Channels; D015534:Trans-Activators; D000071230:Transcriptional Regulator ERG