A novel ATP8 gene mutation in an infant with tetralogy of Fallot
CARDIOLOGY IN THE YOUNG, cilt.24, sa.3, ss.531-533, 2014 (SCI-Expanded, Scopus)
- 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.