A common single nucleotide polymorphism can exacerbate long-QT type 2 syndrome leading to sudden infant death.

ABSTRACT:

Background

Identification of infants at risk for sudden arrhythmic death remains one of the leading challenges of modern medicine. We present a family in which a common polymorphism (single nucleotide polymorphism) inherited from the father, combined with a stop codon mutation inherited from the mother (both asymptomatic), led to 2 cases of sudden infant death.

Methods and results

KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, CACNA1c, CACNB2b, and KCNJ2 genes were amplified and analyzed by direct sequencing. Functional electrophysiological studies were performed with the single nucleotide polymorphism and mutation expressed singly and in combination in Chinese ovary (CHO-K1) and COS-1 cells. An asymptomatic woman presenting after the death of her 2-day-old infant and spontaneous aborti

SUBMITTER: Nof E 

PROVIDER: S-EPMC2858238 | biostudies-literature | 2010 Apr

REPOSITORIES: biostudies-literature