The phenotypic spectrum of PTCD3 deficiency

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dc.contributor.authorLāce, Baiba
dc.contributor.authorFaqeih, Eissa
dc.contributor.authorKaya, Namik
dc.contributor.authorKrūmiņa, Zita
dc.contributor.authorMayr, Johannes A.
dc.contributor.authorMičule, Ieva
dc.contributor.authorWright, Nathan Thompson
dc.contributor.authorAchleitner, Melanie T.
dc.contributor.authorAlQudairy, Hanan
dc.contributor.authorPajusalu, Sander
dc.contributor.authorStavusis, Jānis
dc.contributor.authorZayakin, Pawel
dc.contributor.authorInashkina, Inna
dc.contributor.institutionDepartment of Biology and Microbiology
dc.date.accessioned2025-02-25T09:00:01Z
dc.date.available2025-02-25T09:00:01Z
dc.date.issued2024-09
dc.descriptionPublisher Copyright: © 2024 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.
dc.description.abstractThe PTCD3 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 PTCD3 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 (p < 0.0001) compared to the controls. The whole genome sequencing analysis revealed two heterozygous variants in the PTCD3: c.1182T>A, p.(Tyr394Ter) and c.805C>T, p.(His269Tyr). Tyr394Ter variant ablates the C-terminal 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-year-old boy, who has a global developmental delay, central hypotonia, hyperreflexia and abnormal MRI. PTCD3 pathogenic variant c.538+4A>G was identified by whole exome sequencing. To test the variant's effect on splicing, an RT-PCR experiment was performed, which revealed skipping of an out-of-frame exon 7.en
dc.description.statusPeer reviewed
dc.format.extent8
dc.format.extent2179742
dc.identifier.citationLāce, B, Faqeih, E, Kaya, N, Krūmiņa, Z, Mayr, J A, Mičule, I, Wright, N T, Achleitner, M T, AlQudairy, H, Pajusalu, S, Stavusis, J, Zayakin, P & Inashkina, I 2024, 'The phenotypic spectrum of PTCD3 deficiency', JIMD Reports, vol. 65, no. 5, pp. 297-304. https://doi.org/10.1002/jmd2.12424
dc.identifier.doi10.1002/jmd2.12424
dc.identifier.issn2192-8304
dc.identifier.urihttps://dspace.rsu.lv/jspui/handle/123456789/17132
dc.identifier.urlhttp://www.scopus.com/inward/record.url?scp=85208925812&partnerID=8YFLogxK
dc.language.isoeng
dc.relation.ispartofJIMD Reports
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectLeigh-like syndrome
dc.subjectpentatricopeptide repeat
dc.subjectPTCD3
dc.subject1.6 Biological sciences
dc.subject3.2 Clinical medicine
dc.subject3.1 Basic medicine
dc.subject1.1. Scientific article indexed in Web of Science and/or Scopus database
dc.subjectInternal Medicine
dc.subjectEndocrinology, Diabetes and Metabolism
dc.subjectBiochemistry, Genetics and Molecular Biology (miscellaneous)
dc.subjectSDG 3 - Good Health and Well-being
dc.titleThe phenotypic spectrum of PTCD3 deficiencyen
dc.type/dk/atira/pure/researchoutput/researchoutputtypes/contributiontojournal/article

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