Clinical exome sequencing reveals an important role for clinical diagnosis of intellectual disability with definition of seven novel variants

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dc.contributor.authorYalcintepe, Sinem
dc.contributor.authorGorker, Isik
dc.contributor.authorBozatli, Leyla
dc.contributor.authorGuler, Hazal Sezginer
dc.contributor.authorZhuri, Drenushe
dc.contributor.authorDemir, Selma
dc.contributor.authorAtli, Emine Ikbal
dc.date.accessioned2024-06-12T11:03:53Z
dc.date.available2024-06-12T11:03:53Z
dc.date.issued2023
dc.departmentTrakya Üniversitesien_US
dc.description.abstractIntellectual disability can be defined as a significantly below-average general mental function, accompanied by environmental adaptation and behavioural deterioration. Patient files of 87 children with intellectual disability were evaluated in this study. After clinical exclusion criterias, clinical exome sequencing was performed for 25 of 87 intellectual disability cases with a massively parallel targeted sequencing method. Seventeen variants in the genes MBOAT7, KDM5C, TUBB3, MAN1B1, GFAP, CACNA1A, BCOR, LMNA, LBR, ALS2, ENPP1, UBE3A, TRAPPC9, HSPG2, AFF2, NLGN4, and SOX10 were identified in 14 of 25 patients (56%). Seven of the 17 variants (41.1%) were novel in the genes KDM5C, BCOR, UBE3A, TRAPPC9, AFF2, NLGN4, and SOX10. Seven cases (7/25, 28%) had a definite diagnosis of intellectual disability with their pathogenic variants. The high rate of variant detection (56%) in the current study shows that multiple gene analysis plays an essential role in diagnosing the uncertain etiology of intellectual disability. This study also presents seven novel variants, which are first reported.en_US
dc.identifier.doi10.54029/2023rfz
dc.identifier.endpage+en_US
dc.identifier.issn1823-6138
dc.identifier.issue4en_US
dc.identifier.scopus2-s2.0-85181759525en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage1041en_US
dc.identifier.urihttps://doi.org/10.54029/2023rfz
dc.identifier.urihttps://hdl.handle.net/20.500.14551/21822
dc.identifier.volume28en_US
dc.identifier.wosWOS:001167427800029en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherAsean Neurological Assocen_US
dc.relation.ispartofNeurology Asiaen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectIntellectual Disabilityen_US
dc.subjectClinical Exome Sequencingen_US
dc.subjectNovel Varianten_US
dc.subjectMan1b1en_US
dc.titleClinical exome sequencing reveals an important role for clinical diagnosis of intellectual disability with definition of seven novel variantsen_US
dc.typeArticleen_US

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