Cerebral creatine deficiency syndrome with a novel missense variant in SLC6A8 gene

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dc.contributor.authorTuran, Betul
dc.contributor.authorGoktas, Emine
dc.contributor.authorSonmez, F. Mujgan
dc.contributor.authorAydin, Halil Ibrahim
dc.contributor.authorAydogdu, Demet
dc.contributor.authorZamani, Ayse Gul
dc.contributor.authorYildirim, Mahmut Selman
dc.date.accessioned2024-02-23T14:24:32Z
dc.date.available2024-02-23T14:24:32Z
dc.date.issued2023
dc.departmentNEÜen_US
dc.description.abstractCerebral creatine deficiency syndromes (CCDS) are three metabolic diseases characterized by loss of function in three proteins (GATM, GAMT, and SLC6A8) that required in creatine (Cr) synthesis pathway and transport. In this study, we aimed to identify the causal variant in a male who was 12-year-old manifesting intellectual disability (ID), seizures, expressive dysphasia and autism-like behavior. Urinary Cr metabolite measurements and MRI-spectroscopy (MRS) findings were consistent with CCDS. Molecular analysis revealed de novo hemizygous SLC6A8 (NM_005629.4): c.1400 T > G (p.Met467Arg) variant. The variant was not found in ClinVar, (the date of access: April 23th, 2023) and population databases (ExAC, gnomAD, 1000 Genomes, ESP 6500, Turkish Variome, GenomeAsia, Iranome, GME Variome, TOPMed Bravo and 4.7KJPN), it alters the physicochemical properties of the amino acid, the region is moderately conserved across species and in-silico prediction tools (REVEL, CADD, SIFT, PolyPhen2, Mutation Taster, MetaLR, MCAP, MetaRNN and MutPred) unanimously emphasize pathogenicity. Based on this evidence, the variant was interpreted as likely pathogenic according to the ACMG criteria (PS2, PM2,PP3, and PP4-S). This report may further elucidate the nature and phenotypic consequences of SLC6A8 variants.en_US
dc.identifier.doi10.1111/ncn3.12726
dc.identifier.endpage288en_US
dc.identifier.issn2049-4173
dc.identifier.issue5en_US
dc.identifier.scopus2-s2.0-85158106701en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage286en_US
dc.identifier.urihttps://doi.org/10.1111/ncn3.12726
dc.identifier.urihttps://hdl.handle.net/20.500.12452/13999
dc.identifier.volume11en_US
dc.identifier.wosWOS:000982700600001en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relation.ispartofNeurology And Clinical Neuroscienceen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectCreatineen_US
dc.subjectEpilepsyen_US
dc.subjectIntellectual Disabilityen_US
dc.titleCerebral creatine deficiency syndrome with a novel missense variant in SLC6A8 geneen_US
dc.typeArticleen_US

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