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. Mutation al analyses were used to screen 262 unrelated individuals with LQTS for mutatio ns in the five defined genes. A total of 134 mutations were observed of which eighty were novel.
ALTERATIONS IN THE LONG QT SYNDROME GENES KVLQT1 AND SCN5A AND METHODS FOR DETECTING SAME