Article
A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families.
Cells - 7 Oct 2022
Aldosary Mazhor, Alsagob Maysoon, AlQudairy Hanan, González-Álvarez Ana C, Arold Stefan T, Dababo Mohammad Anas, Alharbi Omar A, Almass Rawan, AlBakheet AlBandary, AlSarar Dalia, Qari Alya, Al-Ansari Mysoon M, Oláhová Monika, Al-Shahrani Saif A, AlSayed Moeenaldeen, Colak Dilek, Taylor Robert W, AlOwain Mohammed, Kaya Namik
Abstract excerpt
The genetic architecture of mitochondrial disease continues to expand and currently exceeds more than 350 disease-causing genes. Bi-allelic variants in RTN4IP1, also known as Optic Atrophy-10 (OPA10), lead to early-onset recessive optic neuropathy, atrophy, and encephalopathy in the afflicted patients. The gene is known to encode a mitochondrial ubiquinol oxidoreductase that interacts with reticulon 4 and is...
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