Mustafa ÖZDEMİR, Şerif HAMİTOĞLU, Ferda ÖZLÜ, Hacer YAPICIOĞLU, Gülen GÜL MERT, Mehmet SATAR

7706G˃A missense mutasyonuna sahip ilk yaşayan yenidoğan olgusu: Alpers-Huttenlocher sendromu

Alpers-Huttenlocher sendromu (AHS) nadir görülen otozomal resesif mitokondriyal DNA deplesyonu hastalığıdır. İlerleyici gelişimsel gerileme, karaciğer dejenerasyonu ve nöbetlerden oluşan klasik klinik triad, bozukluğu tanımlamaya yardımcı olur, ancak çok çeşitli klinik tablolar ortaya çıkabilir. Çocukluk çağında en yaygın mutasyonlar sitokrom c oksidaz Ⅰ ve Ⅳ genlerinde tanımlanmıştır. Cox Ⅱ genindeki 7706G˃A missense mutasyonu daha önce postmortem histolojik çalışma sonrasında bir olguda bildirilmiştir. Sonuç olarak, bizim hastamız Cox Ⅱ geninde 7706G˃A missense mutasyonu olan ve hayattayken AHS tanısı konulan ilk hastadır. 7706G˃A missense mutasyonunun nadir olduğunu ve Alpers-Huttenlocher sendromuna neden olan diğer mutasyonlardan daha ölümcül olabileceğini düşünmekteyiz.

Anahtar Kelimeler:

Alpers-Huttenlocher sendromu, Nöronal dejenerasyon, Karaciğer hastalığı, Yeni nesil sekanslama, Hepatopati

The first living newborn case with 7706G˃A missense mutation: Alpers-Huttenlocher syndrome

Alpers-Huttenlocher syndrome (AHS) is an uncommon autosomal recessive mitochondrial DNA depletion disease. The classic clinical triad of progressive developmental regression, liver degeneration, and seizures helps define the disorder, but a wide range of clinical expressions occur. The most common mutations in childhood have been identified in the cytochrome c oxidase Ⅰ and Ⅳ genes. The 7706G˃A missense mutation in the Cox Ⅱ gene was previously reported in one case after postmortem histological study. Consequently, our patient is the first patient diagnosed with AHS with a 7706G˃A missense mutation in the Cox Ⅱ gene while alive. We proposed that 7706G˃A missense mutation is rare and should be more lethal than other mutations that cause Alpers-Huttenlocher syndrome.

Keywords:

Alpers-Huttenlocher syndrome, Neuronal degeneration, Liver disease, Next-generation sequencing, Hepatopathy,

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