Mutations associated with long qt syndrome
AssigneeTransgenomic, Inc.
InventorsBenjamin Salisbury, Carole L. Harris-Kerr
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Abstract
The invention is based, at least in part, on the observation that the presence of particular biomarkers, e.g., particular mutations in any of the KCNQ1, KCNH2, SCN5A, KCNE1 and KCNE2 genes as identified in Tables 1-5 (and, in particular, those identified with an asterisk), is associated with Long QT Syndrome (LQTS).
Claims20
A method for identifying whether a subject suffers from or is predisposed to suffer from congenital long QT syndrome (LQTS) comprising identifying the presence of at least one biomarker in a biological sample obtained from the subject, wherein the biomarker is selected from the group consisting of variants set forth in Tables 1-5.
A method for predicting therapeutic responsiveness of a subject having LQTS or susceptible to having LQTS to LQTS therapy, the method comprising determining the presence or absence of at least one biomarker in a biological sample obtained from the subject, wherein the biomarker is selected from the group consisting of variants set forth in Tables 1-5, and wherein the presence of the at least one biomarker in the sample is an indication that the subject will respond to the LQTS therapy, thereby predicting responsiveness of the subject to the LQTS therapy.
A nucleic acid molecule comprising a variant of the KCNQ1 (LQT1), KCNH2 (LQT2), SCN5A (LQT3), KCNE1 or KCNE2 genes selected from the group consisting of the variants set forth in Tables 1-5.
Dependencies are inferred from the claim text.