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

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

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...

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Bibliographic Details
Main Authors: Motoi Nishimura, Marehiko Ueda, Ryota Ebata, Emi Utsuno, Takuma Ishii, Kazuyuki Matsushita, Osamu Ohara, Naoki Shimojo, Yoshio Kobayashi, Fumio Nomura
Format: Article
Language:English
Published: BMC 2017-06-01
Series:BMC Medical Genetics
Subjects:
Case report
Haploinsufficiency
Jervell and Lange-Nielsen Syndrome (JLNS)
KCNQ1 (potassium channel Voltage gated, KQT-like subfamily, member 1)
Long QT syndrome (LQTS)
Romano-Ward syndrome (RWS)
Online Access:http://link.springer.com/article/10.1186/s12881-017-0430-7

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http://link.springer.com/article/10.1186/s12881-017-0430-7

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