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A novel ATP8 gene mutation in an infant with tetralogy of Fallot

Published online by Cambridge University Press:  05 June 2013

Turkan Tansel ,
Ferda Paçal  and
Duran Ustek
Turkan Tansel*
Affiliation:
Department of Cardiovascular Surgery, Istanbul Medical Faculty, Istanbul University, Turkey
Ferda Paçal
Affiliation:
Department of Genetics, Institute for Experimental Medicine, Istanbul University, Turkey
Duran Ustek
Affiliation:
Department of Genetics, Institute for Experimental Medicine, Istanbul University, Turkey
*
Corresponding to: T. Tansel, Department of Cardiovascular For Surgery, Istanbul Medical Faculty, Istanbul University, Turkey. Tel: +90 212 414 20 00/32424.; E-mail: ttansel@istanbul.edu.tr
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Abstract

We report the case of a novel mitochondrial DNA mutation in the MT-ATP8 gene in an infant with tetralogy of Fallot. Next-generation sequencing was applied to sequence whole mitochondrial DNA of the patient. A known Leber's hereditary optic neuropathy-associated mutation (G9804A), a heteroplasmic T7501C mutation (17%), and a novel C8481 T Pro > Leu missense mutation in the MT-ATP8 gene was identified.

Keywords

Next-generation sequencingMT-ATP8tetralogy of Fallot
Type
Brief Reports
Information
Cardiology in the Young , Volume 24 , Issue 3 , June 2014 , pp. 531 - 533
Copyright
Copyright © Cambridge University Press 2013 

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