Alterations in the long QT syndrome genes KVLQT1 and SCN5A and methods for detecting same
US6787309B2 · kind B2 · utility
Assignee
Inventors
Key dates
| Filing date | Apr 24, 2001 |
| Grant date | Sep 7, 2004 |
| Priority date | — |
| Expiry date | Jul 3, 2022 |
Classification
- Technology area (CPC C)Chemistry; Metallurgy
- CPC primaryC12Q2600/156
- WIPO fieldOrganic fine chemistry
- WIPO sectorChemistry
Abstract
Long QT Syndrome (LQTS) is a cardiovascular disorder characterized by prolongation of the QT interval on electrocardiogram and presence of syncope, seizures and sudden death. Five genes have been implicated in Romano-Ward syndrome, the autosomal dominant form of LQTS. These genes are KVLQT1, HERG, SCN5A, KCNE1 and KCNE2. Mutations in KVLQt1 and KCNE1 also cause the Jervell and Lange-Nielsen syndrome, a form of LQTS associated with deafness, a phenotypic abnormality inherited in an autosomal recessive fashion. Mutational analyzes were used to screen 262 unrelated individuals with LQTS for mutations in the five defined genes. A total of 134 mutations were observed of which eighty were novel.
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.