{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Lace B"],"funding":["Eesti Teadusagentuur","King Salman Center for Disability Research","National Institutes of Health","National Science Board","European Regional Development Fund"],"pagination":["297-304"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11558465"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["65(5)"],"pubmed_abstract":["The <i>PTCD3</i> gene product (protein PTCD3 or MRPS39) forms the entry channel of the mitochondrial small ribosomal subunit and binds to single-stranded mRNA. Here, we expand on the clinical manifestations of <i>PTCD3</i> pathogenic variants by describing an early-onset patient with Leigh-like syndrome and two patients with milder form of disease, with combined oxidative phosphorylation deficiency. A 34-year-old male and his 33-year-old 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 (<i>p</i> < 0.0001) compared to the controls. The whole genome sequencing analysis revealed two heterozygous variants in the <i>PTCD3</i>: c.1182T>A, "],"journal":["JIMD reports"],"pubmed_title":["The phenotypic spectrum of <i>PTCD3</i> deficiency."],"pmcid":["PMC11558465"],"funding_grant_id":["R15GM148890","PSG774","MCB‐2024182","KSRG‐2022‐105","KSCDR‐RAC: 2180 004","1.1.1.1/18/A/096"],"pubmed_authors":["Kaya N","Wright NT","Mayr JA","Micule I","Lace B","Faqeih E","Krumina Z","Achleitner MT","Pajusalu S","Stavusis J","AlQudairy H","Zayakin P","Inashkina I"],"additional_accession":[]},"is_claimable":false,"name":"The phenotypic spectrum of <i>PTCD3</i> deficiency.","description":"The <i>PTCD3</i> gene product (protein PTCD3 or MRPS39) forms the entry channel of the mitochondrial small ribosomal subunit and binds to single-stranded mRNA. Here, we expand on the clinical manifestations of <i>PTCD3</i> pathogenic variants by describing an early-onset patient with Leigh-like syndrome and two patients with milder form of disease, with combined oxidative phosphorylation deficiency. A 34-year-old male and his 33-year-old 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 (<i>p</i> < 0.0001) compared to the controls. The whole genome sequencing analysis revealed two heterozygous variants in the <i>PTCD3</i>: c.1182T>A, ","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Sep","modification":"2026-06-02T10:38:59.272Z","creation":"2025-04-04T00:21:59.106Z"},"accession":"S-EPMC11558465","cross_references":{"pubmed":["39544688"],"doi":["10.1002/jmd2.12424"]}}