Alterations in the long qt syndrome genes kvlqt1 and scn5a...

Details Alterations in the long qt syndrome genes kvlqt1 and scn5a... Alterations in the long qt syndrome genes kvlqt1 and scn5a...

C - Chemistry, Metallurgy

12

N

C12N 15/12 (2006.01) A61K 39/395 (2006.01) C07K 14/47 (2006.01) C07K 16/18 (2006.01) C12Q 1/68 (2006.01) G01N 33/68 (2006.01)

Patent

CA 2380807

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 novel.

Le syndrome du QT long (LQT) est un trouble cardio-vasculaire caractérisé par la prolongation de l'intervalle QT sur un électrocardiogramme et par la présence de syncopes, d'attaques et de morts subites. Cinq gènes ont été impliqués dans le syndrome de Romano-Ward, la forme autosomique dominante du LQT. Ces gènes sont :KVLQT1, HERG, SCN5A, KCNE1 et KCNE2. Les mutations en KVLQT1 et KCNE1 provoquent également le syndrome de Jervell et Lange-Nielsen, une forme de LQT associée à la surdité, une anomalie phénotypique héritée de façon récessive autosomique. Les analyses mutationnelles ont été utilisées pour cribler 262 individus non apparentés atteints du syndrome LQT afin détecter des mutations dans cinq gènes définis. Un total de 134 mutations ont été observées parmi lesquelles 80 étaient nouvelles.

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