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Here, we report a novel variant of the <jats:italic>APOO\/MIC26<\/jats:italic> gene that causes a severe mitochondrial disease with overall progeria\u2010like phenotypes in two patients. Both patients developed partial agenesis of the corpus callosum, bilateral congenital cataract, hypothyroidism, and severe immune deficiencies. The patients died at an early age of 12 or 18\u2009months. Exome sequencing revealed a mutation (NM_024122.5): c.532G&gt;T (p.E178*) in the <jats:italic>APOO\/MIC26<\/jats:italic> gene that causes a nonsense mutation leading to the loss of 20 C\u2010terminal amino acids. This mutation resulted in a highly unstable and degradation prone MIC26 protein, yet the remaining minute amounts of mutant MIC26 correctly localized to mitochondria and interacted physically with other MICOS subunits. <jats:italic>MIC26<\/jats:italic> KO cells expressing MIC26 harboring the respective <jats:italic>APOO\/MIC26<\/jats:italic> mutation showed mitochondria with perturbed cristae architecture and fragmented morphology resembling <jats:italic>MIC26<\/jats:italic> KO cells. We conclude that the novel mutation found in the <jats:italic>APOO\/MIC26<\/jats:italic> gene is a loss\u2010of\u2010function mutation impairing mitochondrial morphology and cristae morphogenesis.<\/jats:p>","DOI":"10.1111\/cge.14420","type":"journal-article","created":{"date-parts":[[2023,8,31]],"date-time":"2023-08-31T04:31:51Z","timestamp":1693456311000},"page":"659-668","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["A X\u2010linked nonsense <i>APOO\/MIC26<\/i> variant causes a lethal mitochondrial disease with progeria\u2010like phenotypes"],"prefix":"10.1111","volume":"104","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2391-1937","authenticated-orcid":false,"given":"Leon","family":"Peifer\u2010Wei\u00df","sequence":"first","affiliation":[{"name":"Institute of Biochemistry and Molecular Biology I, Medical Faculty and University Hospital D\u00fcsseldorf Heinrich Heine University D\u00fcsseldorf  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