Document Detail

Heterozygous nonsense SCN5A mutation W822X explains a simultaneous sudden infant death syndrome.
MedLine Citation:
PMID:  18551308     Owner:  NLM     Status:  MEDLINE    
The sudden, unexpected, and unexplained death of both members of a set of healthy twins (simultaneous sudden infant death syndrome (SSIDS)) is defined as a case in which both infants meet the definition of sudden infant death syndrome individually. A search of the world medical literature resulted in only 42 reported cases of SSIDS. We report the case of a pair of identical, male, monozygotic twins, 138 days old, who suddenly died, meeting the full criteria of SSIDS and where a genetic screen was performed, resulting in a heterozygous nonsense SCN5A mutation (W822X) in both twins. Immunohistochemistry was performed on cardiac tissue samples utilizing polyclonal antibodies anti-Na+ CP type Valpha (C-20) and a terminal deoxynucleotidyl transferase deoxyuridine triphosphate nick end labeling assay. The cellular localization of the Na+ CP type Valpha (C-20) demonstrated by confocal microscopy on staining pattern of myocytes was concentrated in the intercalated disks of ventricular myocytes. These findings suggest that defective ion channels represent viable candidates for the pathogenesis of SIDS and, obviously, of SSIDS, supporting a link between sudden infant death syndrome and cardiac channelopathies.
Emanuela Turillazzi; Giampiero La Rocca; Rita Anzalone; Simona Corrao; Margherita Neri; Cristoforo Pomara; Irene Riezzo; Steven B Karch; Vittorio Fineschi
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2008-06-13
Journal Detail:
Title:  Virchows Archiv : an international journal of pathology     Volume:  453     ISSN:  0945-6317     ISO Abbreviation:  Virchows Arch.     Publication Date:  2008 Aug 
Date Detail:
Created Date:  2008-08-11     Completed Date:  2008-11-24     Revised Date:  2011-07-22    
Medline Journal Info:
Nlm Unique ID:  9423843     Medline TA:  Virchows Arch     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  209-16     Citation Subset:  IM    
Department of Forensic Pathology, University of Foggia, Ospedale Colonnello D'Avanzo, Viale degli Aviatori 1, 71100, Foggia, Italy.
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MeSH Terms
Codon, Nonsense / genetics*
Diseases in Twins / genetics*,  pathology
Muscle Proteins / genetics*
Sodium Channels / genetics*
Sudden Infant Death / genetics*,  pathology
Reg. No./Substance:
0/Codon, Nonsense; 0/Muscle Proteins; 0/Sodium Channels; 0/sodium channel protein type 5 subunit alpha

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