A Novel Homozygous Founder Variant of <i>RTN4IP1</i> in Two Consanguineous Saudi Families.

ABSTRACT: 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 thought to be a mitochondrial antioxidant NADPH oxidoreductase. Here, we describe two unrelated consanguineous families from the northern region of Saudi Arabia harboring a missense variant (RTN4IP1:NM_032730.5; c.475G

SUBMITTER: Aldosary M 

PROVIDER: S-EPMC9563936 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature