Clinical evaluation of R860Q semi-conservative amino acid substitution in CACNA1C gene in association with long QT syndrome

نویسندگان

  • Usama Boles
  • Chris Simpson
  • Enes E. Gul
  • Cortney Kiss
  • Andres Enriquez
  • Zongchao Jia
  • Adrián Baranchuk
  • Jagdeep S. Walia
چکیده

Article history: Received 26 November 2016 Accepted 31 March 2017 Available online 10 April 2017 she underwent insertion of an implantable cardioverter defibrillator for secondary prevention purpose. A genetic testing panel including sequencing and deletion/duplication analysis of 12 genes associated with LQTS was performed which revealed two variants of unknown significance – one in the CACNA1C gene and the other in the KCNE1 gene. We obtained a targeted 4-generation pedigree (Fig. 1), which revealed

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عنوان ژورنال:

دوره 15  شماره 

صفحات  -

تاریخ انتشار 2017