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A patient with a mitochondrial disorder was found to carry a variant in <jats:italic>MRPS23<\/jats:italic>. More cases are necessary to establish <jats:italic>MRPS23<\/jats:italic> as a mitochondrial disease gene. Of 5134 exomes performed in our center, we identified five independent patients who had similar clinical manifestations and were homozygous for the same germline variant c.119C&gt;T; p.P40L in <jats:italic>MRPS23<\/jats:italic>. Detailed clinical findings, mitochondrial enzyme activity assays from cultured skin fibroblasts, PCR-Sanger-sequencing, and variant age estimation were performed. Their available family members were also studied. Eight members homozygous for the <jats:italic>MRPS23<\/jats:italic> p.P40L were identified. All were from Hmong hilltribe. Seven presented with alteration of consciousness and recurrent vomiting, while the eighth who was a younger brother of a proband was found pre-symptomatically. Patients showed delayed growth and development, hearing impairment, hypoglycemia, lactic acidosis, and liver dysfunction. In vitro assays of cultured fibroblasts showed combined respiratory chain complex deficiency with low activities of complexes I and IV. PCR-Sanger-sequencing confirmed the variant, which was estimated to have occurred 1550\u00a0years ago. These results establish the <jats:italic>MRPS23<\/jats:italic>-associated mitochondrial disorder inherited in an autosomal recessive pattern and provide insight into its clinical and metabolic features.<\/jats:p>","DOI":"10.1038\/s41598-023-49161-7","type":"journal-article","created":{"date-parts":[[2023,12,12]],"date-time":"2023-12-12T06:02:07Z","timestamp":1702360927000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Genetic, metabolic and clinical delineation of an MRPS23-associated mitochondrial disorder"],"prefix":"10.1038","volume":"13","author":[{"given":"Chupong","family":"Ittiwut","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rungnapa","family":"Ittiwut","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chulaluck","family":"Kuptanon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tetsuro","family":"Matsuhashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masaru","family":"Shimura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yohei","family":"Sugiyama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takanori","family":"Onuki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akira","family":"Ohtake","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kei","family":"Murayama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nithiwat","family":"Vatanavicharn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Waralee","family":"Dejputtawat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nitchanund","family":"Tantisirivit","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Phawin","family":"Kor-anantakul","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wuttichart","family":"Kamolvisit","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kanya","family":"Suphapeetiporn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vorasuk","family":"Shotelersuk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2023,12,12]]},"reference":[{"key":"49161_CR1","doi-asserted-by":"publisher","first-page":"16080","DOI":"10.1038\/nrdp.2016.80","volume":"2","author":"GS Gorman","year":"2016","unstructured":"Gorman, G. 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