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A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families

Lookup NU author(s): Dr Monika Olahova, Professor Robert TaylorORCiD

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This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).

Abstract

© 2022 by the authors.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

Publication metadata

Author(s): Aldosary M, Alsagob M, AlQudairy H, Gonzalez-Alvarez AC, Arold ST, Dababo MA, Alharbi OA, Almass R, AlBakheet A, AlSarar D, Qari A, Al-Ansari MM, Olahova M, Al-Shahrani SA, AlSayed M, Colak D, Taylor RW, AlOwain M, Kaya N

Publication type: Article

Publication status: Published

Journal: Cells

Year: 2022

Volume: 11

Issue: 19

Online publication date: 07/10/2022

Acceptance date: 01/10/2022

Date deposited: 31/10/2022

ISSN (electronic): 2073-4409

Publisher: MDPI

URL: https://doi.org/10.3390/cells11193154

DOI: 10.3390/cells11193154

PubMed id: 36231115

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