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We report the case of a patient with\u3000NDUFA8\u2010related mitochondrial disease. The patient presented with developmental delay, microcephaly, and epilepsy. His fibroblasts showed apparent biochemical defects in mitochondrial complex I. Whole\u2010exome sequencing revealed that the patient carried a homozygous variant in\n                    <jats:italic>NDUFA8<\/jats:italic>\n                    . His fibroblasts showed a reduction in the protein expression level of not only NDUFA8, but also the other complex I subunits, consistent with assembly defects. The enzyme activity of complex I and oxygen consumption rate were restored by reintroducing wild\u2010type\n                    <jats:italic>NDUFA8<\/jats:italic>\n                    cDNA into patient fibroblasts. The functional properties of the variant in\n                    <jats:italic>NDUFA8<\/jats:italic>\n                    were also investigated using\n                    <jats:italic>NDUFA8<\/jats:italic>\n                    knockout cells expressing wild\u2010type or mutated\n                    <jats:italic>NDUFA8<\/jats:italic>\n                    cDNA. These experiments further supported the pathogenicity of the variant in complex I assembly. This is the first report describing that the loss of NDUFA8, which has not previously been associated with mitochondrial disease, causes severe defect in the assembly of mitochondrial complex I, leading to progressive neurological and developmental abnormalities.\n                  <\/jats:p>","DOI":"10.1111\/cge.13773","type":"journal-article","created":{"date-parts":[[2020,5,9]],"date-time":"2020-05-09T01:24:20Z","timestamp":1588987460000},"page":"155-165","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":32,"title":["A homozygous variant in\n                    <scp>\n                      <i>NDUFA8<\/i>\n                    <\/scp>\n                    is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency"],"prefix":"10.1111","volume":"98","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3137-6919","authenticated-orcid":false,"given":"Yukiko","family":"Yatsuka","sequence":"first","affiliation":[{"name":"Intractable Disease Research Center Graduate School of Medicine, Juntendo University  Tokyo Japan"},{"name":"Diagnostics and Therapeutics of Intractable Diseases Graduate School of Medicine, Juntendo University  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4978-1680","authenticated-orcid":false,"given":"Yoshihito","family":"Kishita","sequence":"additional","affiliation":[{"name":"Intractable Disease Research Center Graduate School of Medicine, Juntendo University  Tokyo Japan"},{"name":"Diagnostics and Therapeutics of Intractable Diseases Graduate School of Medicine, Juntendo University  Tokyo 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