PubMed 18361072

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Title: A novel SCN5A deletion mutation in a child with ventricular tachycardia, recurrent aborted sudden death, and Brugada electrocardiographic pattern.

Authors: Manlio F Márquez, David Cruz-Robles, Selene Inés-Real, Guillermo J Gallardo, Antonio Gonzlez-Hermosillo, Manuel Cárdenas, Gilberto Vargas-Alarcón

Journal, date & volume: , 2007 Oct-Dec , 77, 284-7

PubMed link:

A novel SCN5A mutation was found in a child with congenital sick sinus disease, a Brugada-like electrocardiogram and recurrent aborted sudden death. The mutation (L1821fs/10) is a 4 base pair deletion (TCTG) at position 5464-5467 in exon 28 of the gene. The novel mutation is predicted to produce a frameshift leading to a premature stop codon after ten missense amino acids upstream that did not allow the generation of the complete protein, and probably producing an incomplete and therefore non functional protein. The resulting alteration in sodium current could explain the clinical phenotype observed in this patient.