Functional evaluation of NAA10 variants in patients with Ogden syndrome

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dc.contributor.authorAydin Gumus, Aydeniz
dc.contributor.authorDogan, Mustafa
dc.contributor.authorGezdirici, Alper
dc.contributor.authorAkbulut, Ekrem
dc.contributor.authorKinay Ermis, Duygu
dc.date.accessioned2026-06-19T06:39:24Z
dc.date.available2026-06-19T06:39:24Z
dc.date.issued2026
dc.departmentMalatya Turgut Özal Üniversitesi
dc.description.abstractObjectives The catalytic subunit of NatA, the main component of the N-terminal acetyltransferase complex, which is involved in most of the acetylation of the human proteome, is encoded by the NAA10 gene. Mutations in the NAA10 gene lead to neurodegenerative diseases associated with disruption of acetylation. Ogden syndrome (OS) is a rare X-linked recessive or dominantly inherited disorder associated with NAA10 gene mutations, characterized by variable findings such as autism spectrum disorder, intellectual disability, and cardiac anomalies. In this article, it is aimed to clarify the functionality of two novel NAA10 gene variants in two female patients with OS. Methods A whole-exome sequencing (WES) study was performed from the blood samples of the patients. The effects of the two variants found by tertiary structure modeling, protein stability analysis, and molecular docking analyses on NAA10 were examined. Results Autism, intellectual retardation, and epilepsy were prominent in the patients, and heterozygous variants c.346C>T and c.439A>T in the NAA10 gene were detected in WES. The clinical findings were compatible with OS. The p.Arg116Trp and p.Met147Leu changes in the NAA10 gene caused changes in the overall topological structure of NAA10, including the substrate and ligand binding site. Conclusion In this study, c.346C>T and c.439A>T variants were found to alter the functional stability, structure, and energy of NAA10. Functional analyses of NAA10 variants in two rare OS patients have once again demonstrated that novel variants are essential studies for phenotype-genotype correlation association steps.
dc.description.sponsorshipno [no] Funding Source: Medline
dc.identifier.doi10.1097/YPG.0000000000000409
dc.identifier.endpage50
dc.identifier.issn0955-8829
dc.identifier.issn1473-5873
dc.identifier.issue1
dc.identifier.orcid0000-0002-7526-9835
dc.identifier.pmid41384780
dc.identifier.scopus2-s2.0-105028668041
dc.identifier.scopusqualityQ3
dc.identifier.startpage42
dc.identifier.urihttps://doi.org/10.1097/YPG.0000000000000409
dc.identifier.urihttps://hdl.handle.net/20.500.12899/5595
dc.identifier.volume36
dc.identifier.wosWOS:001672476300001
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherLippincott Williams & Wilkins
dc.relation.ispartofPsychiatric Genetics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzKA_WOS_20260612
dc.subjectAutism
dc.subjectGene
dc.subjectNaa10
dc.subjectOgden Syndrome
dc.subjectStructure
dc.subjectTertiary
dc.titleFunctional evaluation of NAA10 variants in patients with Ogden syndrome
dc.typeArticle

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