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

Tansel T., Pacal F., Ustek D.

CARDIOLOGY IN THE YOUNG, cilt.24, sa.3, ss.531-533, 2014 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 24 Sayı: 3
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1017/s1047951113000668
  • Dergi Adı: CARDIOLOGY IN THE YOUNG
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.531-533
  • İstanbul Üniversitesi Adresli: Evet

Özet

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.