The Role of Molecular Karyotyping in the Genetic Etiology of Autism

Basit Öğe Kaydı
dc.contributor.authorOzbaran, Burcu
dc.contributor.authorAkgun, Bilcag
dc.contributor.authorKacamak, Duygu
dc.contributor.authorKose, Sezen
dc.contributor.authorKavasoglu, Aysenur
dc.contributor.authorOnay, Huseyin
dc.date.accessioned2019-10-27T11:05:54Z
dc.date.available2019-10-27T11:05:54Z
dc.date.issued2017
dc.departmentEge Üniversitesien_US
dc.description.abstractObjective: The aim of this study was to investigate the deletions and duplications with a molecular karyotyping technique and to elucidate the etiology of autism. Method: A total of 31 patients (20 boys and 11 girls) between 4 to 18 years old with normal chromosomal analysis and no Fragile X mutation were diagnosed in the Ege University Child and Adolescent Psychiatry Clinic with autism (according to DSM-IV-TR criteria) and were enrolled in the study. Symptom severity of the patients was evaluated with a Childhood Autism Rating Scale. Blood samples (EDTA collected) were obtained in order to extract DNA. Whole genome molecular karyotyping analyses were performed with Illumina IScan system by chips, which can scan 330.000 Single Nucleotid Polymorphisms (SNPs) to detect structural anomalies with a 10-kb resolution. Results: All patients had copy number variations (CNV) that sized between 20-kb and 3-Mb. All detected CNVs were analyzed by the help of KaryoStudio software and DGV database. The ones which might be causal and pathogenic were selected. Pathogenic CNVs (7 deletions, 2 duplications) were detected in 9 patients (29%). Conclusion: As a result, this is the first study whereby a molecular karyotyping technique was successfully used in autism patients in Turkey. Moreover, an intermediate resolution of 330.000 SNP chips were proven to be efficient for molecular karyotyping analysis.en_US
dc.identifier.doi10.5080/u18239en_US
dc.identifier.endpage162en_US
dc.identifier.issn1300-2163
dc.identifier.issue3en_US
dc.identifier.pmid28936814en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage156en_US
dc.identifier.urihttps://doi.org/10.5080/u18239
dc.identifier.urihttps://hdl.handle.net/11454/31757
dc.identifier.volume28en_US
dc.identifier.wosWOS:000411778500003en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isotren_US
dc.publisherTurkiye Sinir Ve Ruh Sagligi Dernegien_US
dc.relation.ispartofTurk Psikiyatri Dergisien_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectautismen_US
dc.subjectmolecularen_US
dc.subjectkaryotypingen_US
dc.subjectsingle nucleotide polymorphismen_US
dc.subjectmicroarrayen_US
dc.titleThe Role of Molecular Karyotyping in the Genetic Etiology of Autismen_US
dc.typeArticleen_US

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