A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report

• Main Authors: Motoi Nishimura (Author), Marehiko Ueda (Author), Ryota Ebata (Author), Emi Utsuno (Author), Takuma Ishii (Author), Kazuyuki Matsushita (Author), Osamu Ohara (Author), Naoki Shimojo (Author), Yoshio Kobayashi (Author), Fumio Nomura (Author)
• Formato: Livro
• Publicado em: BMC, 2017-06-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Abstract Background According to previous KCNQ1 (potassium channel, voltage gated, KQT-like subfamily, member 1) gene screening studies, missense variants, but not nonsense or frame-shift variants, cause the majority of long QT syndrome (LQTS; Romano-Ward syndrome [RWS]) 1 cases. Several missense va...