Three Generations of Hereditary Long-QT Syndrome with Complete Penetrance Caused by the p.G316E KCNQ1 Mutation
- نوع فایل : کتاب
- زبان : انگلیسی
- مؤلف : M. Teresa Viadero • Esther Rub´n • Teresa Amigo • Domingo Gonza´lez-Lamunکo
- چاپ و سال / کشور: 2011
Description
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.
Pediatr Cardiol (2011) 32:102–104 DOI 10.1007/s00246-010-9821-7 Received: 15 April 2010 / Accepted: 29 September 2010 / Published online: 28 October 2010
