Not all pathogenic mutations are pathogenic: KCNH2 mutations in two sisters with tetralogy of Fallot

Int J Cardiol. 2014 Mar 1;172(1):276-7. doi: 10.1016/j.ijcard.2013.12.242. Epub 2014 Jan 11.

Authors

Zahurul A Bhuiyan¹, Abdulrahman Alswaid², Marco Belfiore³, Saleh S Al-Ghamdi⁴, Juno Liang⁵, Jürg Schlaepffer⁶

Affiliations

¹ Laboratoire de Génétique Moléculaire, Lausanne, Switzerland. Electronic address: [email protected].
² National Guard Hospital, Riyadh, Saudi Arabia.
³ Laboratoire de Cytogénétique Moléculaire et Conventionnelle, Service de Génétique Médicale, Lausanne, Switzerland.
⁴ Prince Sultan Cardiac Centre, Riyadh, Saudi Arabia.
⁵ BGI-Shenzhen, Shenzhen, China.
⁶ Service de Cardiologie, CHUV, Lausanne, Switzerland.

PMID: 24462143
DOI: 10.1016/j.ijcard.2013.12.242

No abstract available

Keywords: Exome sequencing; Genetics; Long QT syndrome; Tetralogy of Fallot; Unexpected findings.

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Child
ERG1 Potassium Channel
Electrocardiography
Ether-A-Go-Go Potassium Channels / genetics*
Exome / genetics
Female
Humans
Long QT Syndrome / diagnosis
Long QT Syndrome / genetics*
Pedigree
Siblings
Tetralogy of Fallot / genetics*
Tetralogy of Fallot / pathology
Tetralogy of Fallot / surgery

Substances

ERG1 Potassium Channel
Ether-A-Go-Go Potassium Channels
KCNH2 protein, human