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Here, we expand on the clinical manifestations of\n                    <jats:italic>PTCD3<\/jats:italic>\n                    pathogenic variants by describing an early\u2010onset patient with Leigh\u2010like syndrome and two patients with milder form of disease, with combined oxidative phosphorylation deficiency. A 34\u2010year\u2010old male and his 33\u2010year\u2010old sister both have horizontal nystagmus, pronounced rough tremor, truncal ataxia, dysmetria, spasticity and hyperreflexia. The basal respiration rate decreased significantly for the male patient and his mother (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009&lt;\u20090.0001) compared to the controls. The whole genome sequencing analysis revealed two heterozygous variants in the\n                    <jats:italic>PTCD3<\/jats:italic>\n                    : c.1182T&gt;A, p.(Tyr394Ter) and c.805C&gt;T, p.(His269Tyr). Tyr394Ter variant ablates the C\u2010terminal half of the protein, including a significant portion of the central fold. In silico modelling for the variant His269Tyr shows that the inclusion of the slightly larger tyrosine sidechain is well tolerated, with no significant change in either the position or the movement of the surrounding area. The third case is a 9\u2010year\u2010old boy, who has a global developmental delay, central hypotonia, hyperreflexia and abnormal MRI.\n                    <jats:italic>PTCD3<\/jats:italic>\n                    pathogenic variant c.538+4A&gt;G was identified by whole exome sequencing. To test the variant's effect on splicing, an RT\u2010PCR experiment was performed, which revealed skipping of an out\u2010of\u2010frame exon 7.\n                  <\/jats:p>","DOI":"10.1002\/jmd2.12424","type":"journal-article","created":{"date-parts":[[2024,5,28]],"date-time":"2024-05-28T00:44:14Z","timestamp":1716857054000},"page":"297-304","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["The phenotypic spectrum of\n                    <i>PTCD3<\/i>\n                    deficiency"],"prefix":"10.1002","volume":"65","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5371-6756","authenticated-orcid":false,"given":"Baiba","family":"Lace","sequence":"first","affiliation":[{"name":"Riga East Clinical University Hospital  Riga Latvia"},{"name":"Institute of Clinical and Preventive Medicine, University of Latvia  Riga Latvia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eissa","family":"Faqeih","sequence":"additional","affiliation":[{"name":"Section of Medical Genetics Children's Specialist Hospital, King Fahad Medical City  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Namik","family":"Kaya","sequence":"additional","affiliation":[{"name":"Translational Genomics Department MBC: 26, Centre for Genomic Medicine  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zita","family":"Krumina","sequence":"additional","affiliation":[{"name":"Department of Biology and Microbiology Riga Stradi\u0146\u0161 University  Riga Latvia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes A.","family":"Mayr","sequence":"additional","affiliation":[{"name":"University Children\u2019s Hospital, Laboratory Salzburger Landeskliniken Universitaetsklinikum of the Paracelsus Medical University Salzburg  Salzburg Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ieva","family":"Micule","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Prenatal Diagnostics Children's University Hospital  Riga Latvia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathan Thompson","family":"Wright","sequence":"additional","affiliation":[{"name":"Department of Chemistry and Biochemistry James Madison University  Harrisonburg Virginia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melanie T.","family":"Achleitner","sequence":"additional","affiliation":[{"name":"University Children\u2019s Hospital, Laboratory Salzburger Landeskliniken Universitaetsklinikum of the Paracelsus Medical University Salzburg  Salzburg Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanan","family":"AlQudairy","sequence":"additional","affiliation":[{"name":"Translational Genomics Department MBC: 26, Centre for Genomic Medicine  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sander","family":"Pajusalu","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Genetics and Personalized Medicine Clinic Tartu University Hospital  Tartu Estonia"},{"name":"Department of Genetics and Personalized Medicine Institute of Clinical Medicine, Faculty of Medicine, University of Tartu  Tartu Estonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janis","family":"Stavusis","sequence":"additional","affiliation":[{"name":"Latvian Biomedical Research and Study Centre  Riga Latvia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pawel","family":"Zayakin","sequence":"additional","affiliation":[{"name":"Latvian Biomedical Research and Study Centre  Riga Latvia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inna","family":"Inashkina","sequence":"additional","affiliation":[{"name":"Latvian Biomedical Research and Study Centre  Riga Latvia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,5,27]]},"reference":[{"key":"e_1_2_14_2_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.aaa1193"},{"key":"e_1_2_14_3_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms21228879"},{"key":"e_1_2_14_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biochi.2015.04.004"},{"key":"e_1_2_14_5_1","unstructured":"The data used for the analyses described in this manuscript were obtained from: dbGaP accession number phs000424.vN.pN. 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