Document Detail


Molecular diagnosis in a child with sudden infant death syndrome.
MedLine Citation:
PMID:  11684219     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Although sudden infant death syndrome (SIDS) has been associated with long QT syndrome-a genetic disorder that causes arrhythmia-a causal link has not been shown. We screened genomic DNA from a child who died of SIDS and identified a de-novo mutation in KVLQT1, the gene most frequently associated with long QT syndrome. This mutation (C350T) had already been identified in an unrelated family that was affected by long QT syndrome. These results confirm the hypothesis that some deaths from SIDS are caused by long QT syndrome and support implementation of neonatal electrocardiographic screening.
Authors:
P J Schwartz; S G Priori; R Bloise; C Napolitano; E Ronchetti; A Piccinini; C Goj; G Breithardt; E Schulze-Bahr; H Wedekind; J Nastoli
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Publication Detail:
Type:  Letter; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Lancet     Volume:  358     ISSN:  0140-6736     ISO Abbreviation:  Lancet     Publication Date:  2001 Oct 
Date Detail:
Created Date:  2001-10-30     Completed Date:  2001-12-04     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  2985213R     Medline TA:  Lancet     Country:  England    
Other Details:
Languages:  eng     Pagination:  1342-3     Citation Subset:  AIM; IM    
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Female
Humans
Infant
Italy
Long QT Syndrome / complications*,  genetics*
Male
Polymorphism, Genetic
Sudden Infant Death / diagnosis,  etiology*

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