PMID- 19083750
OWN - NLM
STAT- MEDLINE
DCOM- 20090227
LR  - 20161124
IS  - 1878-0326 (Electronic)
IS  - 1872-4973 (Linking)
VI  - 1
IP  - 2
DP  - 2007 Jun
TI  - Mutations in the SCN5A gene: evidence for a link between long QT syndrome and 
      sudden death?
PG  - 170-4
LID - 10.1016/j.fsigen.2007.01.009 [doi]
AB  - Mutations in cardiac ion channel genes leading to channel dysfunctions or changes 
      in the gene expression may cause inherited arrhythmogenic diseases. These genetic 
      diseases are important causes of sudden unexplained death (SUD). Ten cases of 
      SUD, including six cases of sudden infant death syndrome (SIDS) and four cases of 
      SUD from people in the age of 14-40 years were examined by postmortem molecular 
      analysis. Genomic DNA was extracted from blood cells and two long QT syndrome 
      relevant genes, SCN5A encoding the alpha-subunit of the voltage-gated sodium 
      channel Nav1.5 and KCNH2 encoding the alpha-subunit of the voltage-gated 
      potassium channel HERG were selected for mutation analysis by complete gene 
      sequencing. Various silent mutations in the KCNH2 and SCN5A genes as well as the 
      known H558R polymorphism in SCN5A were detected. Moreover, sequence variations in 
      the 3' untranslated region (3'UTR) and 5' untranslated region (5'UTR) of the 
      SCN5A gene were observed. This study suggests that these areas are important 
      regions to investigate the impact of changes in cardiac ion channel function on 
      the risk of sudden unexpected death.
FAU - Kiehne, Nadine
AU  - Kiehne N
AD  - Zentrum der Rechtsmedizin, University of Frankfurt, Kennedyallee 104, D-60596 
      Frankfurt am Main, Germany.
FAU - Kauferstein, Silke
AU  - Kauferstein S
LA  - eng
PT  - Journal Article
DEP - 20070226
PL  - Netherlands
TA  - Forensic Sci Int Genet
JT  - Forensic science international. Genetics
JID - 101317016
RN  - 0 (3' Untranslated Regions)
RN  - 0 (5' Untranslated Regions)
RN  - 0 (DNA Primers)
RN  - 0 (ERG1 Potassium Channel)
RN  - 0 (Ether-A-Go-Go Potassium Channels)
RN  - 0 (KCNH2 protein, human)
RN  - 0 (Muscle Proteins)
RN  - 0 (NAV1.5 Voltage-Gated Sodium Channel)
RN  - 0 (SCN5A protein, human)
RN  - 0 (Sodium Channels)
SB  - IM
MH  - 3' Untranslated Regions
MH  - 5' Untranslated Regions
MH  - Adolescent
MH  - Adult
MH  - Autopsy
MH  - Base Sequence
MH  - DNA Mutational Analysis
MH  - DNA Primers/genetics
MH  - Death, Sudden/*etiology
MH  - Death, Sudden, Cardiac/etiology
MH  - ERG1 Potassium Channel
MH  - Ether-A-Go-Go Potassium Channels/genetics
MH  - Female
MH  - Forensic Genetics
MH  - Humans
MH  - Infant
MH  - Infant, Newborn
MH  - Long QT Syndrome/*genetics/mortality
MH  - Male
MH  - Muscle Proteins/*genetics
MH  - *Mutation
MH  - NAV1.5 Voltage-Gated Sodium Channel
MH  - Polymerase Chain Reaction
MH  - Retrospective Studies
MH  - Sodium Channels/*genetics
MH  - Sudden Infant Death/genetics
MH  - Young Adult
EDAT- 2007/06/01 00:00
MHDA- 2009/02/28 09:00
CRDT- 2008/12/17 09:00
PHST- 2007/01/24 00:00 [received]
PHST- 2007/01/27 00:00 [accepted]
PHST- 2008/12/17 09:00 [entrez]
PHST- 2007/06/01 00:00 [pubmed]
PHST- 2009/02/28 09:00 [medline]
AID - S1872-4973(07)00047-6 [pii]
AID - 10.1016/j.fsigen.2007.01.009 [doi]
PST - ppublish
SO  - Forensic Sci Int Genet. 2007 Jun;1(2):170-4. doi: 10.1016/j.fsigen.2007.01.009. 
      Epub 2007 Feb 26.