Christiansen Michael, Tønder Niels, Larsen Lars A, Andersen Paal S, Simonsen Henrik, Oyen Nina, Kanters Jørgen K, Jacobsen Joes R, Fosdal Inger, Wettrell Gøran, Kjeldsen Keld
Department of Clinical Biochemistry, Statens Serum Institut, Copenhagen, Denmark.
Am J Cardiol. 2005 Feb 1;95(3):433-4. doi: 10.1016/j.amjcard.2004.09.054.
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.
在一名患有婴儿猝死综合征（SIDS）的7周龄婴儿中，在KCNH2基因中鉴定出一种新的错义突变，导致第101位赖氨酸被谷氨酸取代（K101E）。KCNH2编码HERG离子通道，该基因突变与先天性长QT综合征（LQTS）相关，在该SIDS病例的家族中，该突变与尖端扭转型室性心动过速相关，使得SIDS成为先天性LQTS最可能的结局。
