Three Generations of Hereditary Long-QT Syndrome with Complete Penetrance Caused by the p.G316E KCNQ1 Mutation

• Published in: Pediatric cardiology Vol. 32; no. 1; pp. 102 - 104
• Main Authors: Viadero, M. Teresa, Rubín, Esther, Amigo, Teresa, González-Lamuño, Domingo
• Format: Journal Article
• Language: English
• Published: New York Springer-Verlag 2011; Springer
• Subjects: Cardiac Surgery; Cardiology; Case Report; Causes of; Diagnosis; Female; Gene mutations; Genetic aspects; Genetic Predisposition to Disease; Health aspects; Humans; KCNQ1 Potassium Channel; Long QT syndrome; Male; Medicine; Medicine & Public Health; Mutation, Missense; Pedigree; Romano-Ward Syndrome - genetics; Vascular Surgery; Spain; Genetic mutation; Long-QT syndrome; KCNQ1 channel
• DOI: 10.1007/s00246-010-9821-7
• ISSN: 0172-0643

This report describes a three-generation family with a severe phenotype of long-QT syndrome-1 (LQTS-1) caused by a single nucleotide mutation in the KQT-like, voltage-gated potassium channel-1 gene (KCNQ1; MIM 607542). Two members of the family died suddenly in their childhood, and all eight surviving members with prolonged QT have a heterozygous missense mutation resulting in a glycine-to-glutamate amino acid substitution at position 316 of the potassium channel. In this family, the newly reported mutation, guanine-to-adenosine at position 947 in the KCNQ1 gene, exhibits a dominant trait of LQTS with complete penetrance, in contrast to the relatively reduced clinical penetrance found in most LQTS cases.