Clinical and molecular findings in a Turkish family with an ultra-rare condition, ELP2-related neurodevelopmental disorder

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dc.authoridTERALI, KEREM/0000-0002-9964-6383
dc.authoriddogan, mustafa/0000-0003-0464-6565
dc.authorwosidTERALI, KEREM/Q-3270-2016
dc.contributor.authorDogan, Mustafa
dc.contributor.authorTerali, Kerem
dc.contributor.authorEroz, Recep
dc.contributor.authorDemirci, Huseyin
dc.contributor.authorKocabay, Kenan
dc.date.accessioned2021-12-01T18:50:00Z
dc.date.available2021-12-01T18:50:00Z
dc.date.issued2021
dc.department[Belirlenecek]en_US
dc.description.abstractElongator is a multi-subunit protein complex bearing six different protein subunits, Elp1 to -6, that are highly conserved among eukaryotes. Elp2 is the second major subunit of Elongator and, together with Elp1 and Elp3, form the catalytic core of this essential complex. Pathogenic variants that affect the structure and function of the Elongator complex may cause neurodevelopmental disorders. Here, we report on a new family with three children affected with a severe form of intellectual disability along with spastic tetraparesis, choreoathetosis, and self injury. Molecular genetic analyses reveal a homozygous missense variant in the ELP2 gene (NM_018255.4 (ELP2): c.1385G > A (p.Arg462Gln)), while in silico studies suggest a loss of electrostatic interactions that may contribute to the overall stability of the encoded protein. We also include a comparison of the patients with ELP2-related neurodevelopmental disorder to those previously reported in the literature. Apart from being affected with intellectual disability, we have extremely limited clinical knowledge about patients harboring ELP2 variants. Besides providing support to the causal role of p.Arg462Gln in ELP2-related neurodevelopmental disorder, we add self-injurious behavior to the clinical phenotypic repertoire of the disease.en_US
dc.identifier.doi10.1007/s11033-020-06097-9
dc.identifier.endpage708en_US
dc.identifier.issn0301-4851
dc.identifier.issn1573-4978
dc.identifier.issue1en_US
dc.identifier.pmid33393008en_US
dc.identifier.scopus2-s2.0-85098669622en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage701en_US
dc.identifier.urihttps://doi.org/10.1007/s11033-020-06097-9
dc.identifier.urihttps://hdl.handle.net/20.500.12684/10811
dc.identifier.volume48en_US
dc.identifier.wosWOS:000604518700014en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherSpringeren_US
dc.relation.ispartofMolecular Biology Reportsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectElongator complexen_US
dc.subjectELP2en_US
dc.subjectIntellectual disabilityen_US
dc.subjectSpasticityen_US
dc.subjectChoreoathetosisen_US
dc.subjectSelf injuryen_US
dc.subjectNext-Generationen_US
dc.subjectMutationsen_US
dc.subjectImpairmenten_US
dc.subjectSequenceen_US
dc.subjectServeren_US
dc.titleClinical and molecular findings in a Turkish family with an ultra-rare condition, ELP2-related neurodevelopmental disorderen_US
dc.typeArticleen_US

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