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Long QT Syndrome--Associated Mutations in Intrauterine Fetal Death.

Authors :
Crotti, Lia
Tester, David J.
White, Wendy M.
Bartos, Daniel C.
Insolia, Roberto
Besana, Alessandra
Kunic, Jennifer D.
Will, Melissa L.
Velasco, Ellyn J.
Bair, Jennifer J.
Ghidoni, Alice
Cetin, Irene
Van Dyke, Daniel L.
Wick, Myra J.
Brost, Brian
Delisle, Brian P.
Facchinetti, Fabio
George Jr, Alfred L.
Schwartz, Peter J.
Ackerman, Michael J.
Source :
JAMA: Journal of the American Medical Association. 4/10/2013, Vol. 309 Issue 14, p1473-1482. 10p.
Publication Year :
2013

Abstract

The article discusses research which examined the spectrum and prevalence of mutations in the three most common long QT syndrome (LQTS) susceptible genes. Intrauterine fetal death or stillbirth accounts for 50% of perinatal deaths. A total of 91 unexplained intrauterine fetal deaths are considered in the study. Denaturing high-performance liquid chromatography and direct DNA sequencing were used for mutational analyses of the genes. Findings revealed the association of missense mutations with LQTS susceptibility in three cases. In addition, genetic variants leading to dysfunctional LQTS-associated ion channels were found in 8 cases.

Details

Language :
English
ISSN :
00987484
Volume :
309
Issue :
14
Database :
Academic Search Index
Journal :
JAMA: Journal of the American Medical Association
Publication Type :
Academic Journal
Accession number :
86742552
Full Text :
https://doi.org/10.1001/jama.2013.3219