Three Generations of Hereditary Long-QT Syndrome with Complete Penetrance Caused by the p.G316E KCNQ1 Mutation
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 survivi...
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Published in | Pediatric cardiology Vol. 32; no. 1; pp. 102 - 104 |
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Main Authors | , , , |
Format | Journal Article |
Language | English |
Published |
New York
Springer-Verlag
2011
Springer |
Subjects | |
Online Access | Get full text |
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Summary: | 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. |
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Bibliography: | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 ObjectType-Case Study-2 ObjectType-Feature-4 ObjectType-Report-1 ObjectType-Article-3 |
ISSN: | 0172-0643 1432-1971 |
DOI: | 10.1007/s00246-010-9821-7 |