Alterations in the long qt syndrome genes kvlqt1 and scn5a and methods for detecting same
CA 2380807 A1 · Owner: University Of Utah Research Foundation · Inventors: Keating, Mark T.; Splawski, Igor
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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 analyses 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 …
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Listed from its CIPO record in Patent Yard's archive of Canadian patents past their term. Its claims, description and drawings are in the CIPO record and on Google Patents, and the Claude kit works from them.
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- Filed August 9, 2000. No grant is recorded for it in Canada; had it been granted, its 20-year term would have ended August 9, 2020.
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