Investigation the Relationship of Autism Spectrum Disorder and FOXP2, GRIN2B, KATNAL2, GABRA4 Genes

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dc.authoridatli, emine ikbal/0000-0001-9003-1449
dc.authorwosidDemir, Selma/A-1500-2018
dc.authorwosidOZEN, YASEMİN/AEW-9427-2022
dc.authorwosidatli, emine ikbal/AAN-5060-2020
dc.contributor.authorYalcintepe, Sinem
dc.contributor.authorGorker, Isik
dc.contributor.authorDemir, Selma
dc.contributor.authorAtli, Emine Ikbal
dc.contributor.authorAtli, Engin
dc.contributor.authorTozkir, Hilmi
dc.contributor.authorSut, Necdet
dc.date.accessioned2024-06-12T10:52:55Z
dc.date.available2024-06-12T10:52:55Z
dc.date.issued2021
dc.departmentTrakya Üniversitesien_US
dc.description.abstractIntroduction: Autism spectrum disorder is a genetically and phenotypically heterogeneous group. Genetic studies carried out to date have suggested that both common and rare genetic variants play a role in the etiology of this disorder. In our study, we aimed to investigate the effect of FOXP2, GRIN2B, KATNAL2 and GABRA4 gene variants in the pathogenesis of autism spectrum disorder. Method: In our prospectively planned study, all exons and exon-intron junctions of FOXP2, GRIN2B, KATNAL2 and GABRA4 genes were screened by next generation sequencing analysis in 96 patients who diagnosed with autism spectrum disorder. Results: In our study, the average age was 10.1 and the male/female ratio was 75/21. Pathogenic or likely pathogenic variants were not detected in FOXP2, GRIN2B, KATNAL2 and GABRA4 genes, however, 69 intronic variants of unknown clinical significance were detected in 50 cases (52%). Among those, 26 were in the GABRA4 gene, 22 in the FOXP2 gene, 13 in the KATNAL2 gene, and 8 in the GRIN2B gene. Twenty three of these 69 variants were novel that were not previously reported in the literature. Conclusion: In our study, we could not identify a relationship between the autism spectrum disorder and FOXP2, GRIN28, KATNAL2 and GABRA4 genes. Identifying genetic risk factors that play a role in the etiopathogenesis of autism spectrum disorder will contribute significantly to understanding the molecular mechanisms of the disease and the development of new treatment strategies. In this context, comprehensive molecular genetic studies such as whole exome or whole genome sequencing are required with higher number of cases in different populations.en_US
dc.description.sponsorshipTrakya University Scientific Research Projects Unit [2018/340]en_US
dc.description.sponsorshipThis study was funded by Trakya University Scientific Research Projects Unit with the project number of 2018/340.en_US
dc.identifier.doi10.29399/npa.27407
dc.identifier.endpage175en_US
dc.identifier.issn1300-0667
dc.identifier.issn1309-4866
dc.identifier.issue3en_US
dc.identifier.pmid34526837en_US
dc.identifier.scopus2-s2.0-85116330478en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage171en_US
dc.identifier.trdizinid445596en_US
dc.identifier.urihttps://doi.org/10.29399/npa.27407
dc.identifier.urihttps://search.trdizin.gov.tr/yayin/detay/445596
dc.identifier.urihttps://hdl.handle.net/20.500.14551/18880
dc.identifier.volume58en_US
dc.identifier.wosWOS:000748736900002en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakTR-Dizinen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherTurkish Neuropsychiatry Assoc-Turk Noropsikiyatri Dernegien_US
dc.relation.ispartofNoropsikiyatri Arsivi-Archives Of Neuropsychiatryen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectAutism Spectrum Disorderen_US
dc.subjectNext Generation Sequencingen_US
dc.subjectFOXP2en_US
dc.subjectGRIN2Ben_US
dc.subjectKATNAL2en_US
dc.subjectGABRA4en_US
dc.subjectMutationsen_US
dc.subjectExpressionen_US
dc.subjectChildrenen_US
dc.subjectSpeechen_US
dc.titleInvestigation the Relationship of Autism Spectrum Disorder and FOXP2, GRIN2B, KATNAL2, GABRA4 Genesen_US
dc.typeArticleen_US

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