Heterozygous nonsense SCN5A mutation W822X explains a simultaneous sudden infant death syndrome.

Giampiero La Rocca, Rita Anzalone, Emanuela Turillazzi, Irene Riezzo, Vittorio Fineschi, Steven B. Karch, Margherita Neri, Cristoforo Pomara, Simona Corrao

Risultato della ricerca: Articlepeer review

32 Citazioni (Scopus)

Abstract

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 Vα (C-20) and a terminal deoxynucleotidyl transferase deoxyuridine triphosphate nick end labeling assay. The cellular localization of the Na+ CP type Vα (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.
Lingua originaleEnglish
pagine (da-a)209-216
Numero di pagine8
RivistaVirchows Archiv
Volume453
Stato di pubblicazionePublished - 2008

All Science Journal Classification (ASJC) codes

  • Pathology and Forensic Medicine
  • Molecular Biology
  • Cell Biology

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