Investigation of Copy Number Variation by arrayCGH in Turkish Children and Adolescents Diagnosed with Autism Spectrum Disorders

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dc.authoridAYKUTLU, Hasan Cem/0000-0002-4809-4857
dc.authoridGürkan, Hakan/0000-0002-8967-6124
dc.authoridCeylan, Cansın/0000-0003-3991-7054
dc.authoridAYKUTLU, HASAN CEM/0000-0002-4809-4857;
dc.authorwosidAYKUTLU, Hasan Cem/KCY-5594-2024
dc.authorwosidGürkan, Hakan/AAF-2866-2020
dc.authorwosidCeylan, Cansın/KBA-7923-2024
dc.authorwosidceylan, cansin/ABB-8894-2021
dc.authorwosidAYKUTLU, HASAN CEM/AAH-7963-2019
dc.authorwosidATLI, Engin/AAY-4641-2021
dc.contributor.authorGorker, Isik
dc.contributor.authorGurkan, Hakan
dc.contributor.authorUlusal, Selma
dc.contributor.authorAtli, Engin
dc.contributor.authorAyaz, Guclu
dc.contributor.authorCeylan, Cansin
dc.contributor.authorTozkir, Hilmi
dc.date.accessioned2024-06-12T10:52:56Z
dc.date.available2024-06-12T10:52:56Z
dc.date.issued2018
dc.departmentTrakya Üniversitesien_US
dc.description.abstractAim: The development of whole-genome screening methodologies for the detection of copy number variations (CNVs), such as array-based comparative genomic hybridization (aCHG), provides a much higher resolution than karyotyping leading to the identification of novel microdeletion and microduptication syndromes often associated with an autism spectrum disease (ASD) phenotype. The aim of the study was to determine CNVs of patients with ASD by using array-based comparative genomic hybridization. Methods: Fifty-three patients diagnosed with ASD between 20.01.2014 and 14.01.2015 were included in the study. Chromosome analysis of the patients was performed from peripheral blood cultures and analysed as normal. All patients were evaluated with P064C1 and P096A2 MLPA probes in terms of 16 mental retardation related syndromes. For aCGH method, SurePrint G3 Human microarrays 8x60K were used with genomic DNA isolated from peripheral blood. Results According to results of 53 patients who were included in and performed with arrayCGH, 8 (15%) patients had CNVs classified as pathogenic or variant of unknown significance (VOUS) in the study. We detected a pathogenic NRXN1 gene partial CNV deletion (2p16.3) in two patients. Also we identified a 900 kb duplication of 4p15.31 including SLIT2 gene, and a 245 kb duplication of 15q11.2 including PWRN1 gene in one patient. Our other findings are considered to be a variant of unknown significance (VOUS). Conclusion: The results of the study support the literature knowledge, where the copy number variations that cannot be detected with conventional cytogenetics methods in terms of size may happen in patients with ASD.en_US
dc.identifier.doi10.5152/npa.2017.21611
dc.identifier.endpage219en_US
dc.identifier.issn1300-0667
dc.identifier.issn1309-4866
dc.identifier.issue3en_US
dc.identifier.pmid30224866en_US
dc.identifier.scopus2-s2.0-85056497122en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage215en_US
dc.identifier.urihttps://doi.org/10.5152/npa.2017.21611
dc.identifier.urihttps://hdl.handle.net/20.500.14551/18885
dc.identifier.volume55en_US
dc.identifier.wosWOS:000450097800005en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_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.subjectAutismen_US
dc.subjectCopy Number Variationsen_US
dc.subjectGenomic Hybridizationen_US
dc.subjectMicroarraysen_US
dc.subjectKaryotypeen_US
dc.subjectMicroarray Analysisen_US
dc.subjectVariantsen_US
dc.subjectEpilepsyen_US
dc.titleInvestigation of Copy Number Variation by arrayCGH in Turkish Children and Adolescents Diagnosed with Autism Spectrum Disordersen_US
dc.typeArticleen_US

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