Diagnostic Value of Microarray Method in Autism Spectrum Disorder, Intellectual Disability, and Multiple Congenital Anomalies and Some Candidate Genes for Autism: Experience of Two Centers

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dc.authoridYılmaz Gulec, Elif/0000-0003-0872-3898
dc.authoridDogru, Zeynep/0000-0002-3371-0127
dc.authorwosidGezdirici, Alper/W-8459-2018
dc.authorwosidOzalp Yuregir, Ozge/JCF-2622-2023
dc.authorwosidYılmaz Gulec, Elif/GPS-8141-2022
dc.contributor.authorAyaz, Akif
dc.contributor.authorGezdirici, Alper
dc.contributor.authorGulec, Elif Yilmaz
dc.contributor.authorOzalp, Ozge
dc.contributor.authorKoseoglu, Abdullah Huseyin
dc.contributor.authorDogru, Zeynep
dc.contributor.authorYalcintepe, Sinem
dc.date.accessioned2024-06-12T11:08:28Z
dc.date.available2024-06-12T11:08:28Z
dc.date.issued2022
dc.departmentTrakya Üniversitesien_US
dc.description.abstractObjective: This study aimed to demonstrate the diagnostic value of microarray testing in autism spectrum disorder, intellectual disability, and multiple congenital anomalies of unknown etiology, as well as to report some potential candidate genes for autism. Methods: Microarray analysis records between January 2016 and December 2017 from two Genetic Diagnostic Centers in Turkey, Kanuni Sultan Suleyman and Adana Numune Training and Research Hospital, were compiled. Detected copy number variations (CNVs) were classified as benign, likely benign, variants of uncertain significance (VUS), likely pathogenic, and pathogenic according to American College of Medical Genetics and Genomics guidelines. The clinical findings of the some patients and the literature data were compared. Results: In 109 (24. 5%) of 445 patients, a total of 163 CNVs with reporting criterion feature were detected. Sixty-nine (42%) and 8 (5%) of these were evaluated as pathogenic and likely pathogenic, respectively. Fifteen (9%) CNVs were also evaluated as VUS. Pathogenic or likely pathogenic CNVs were detected in 61 (13. 6%) of 445 patients. Conclusions: We found that the probability of elucidating the etiology of microarray method in autism spectrum disorder, intellectual disability, and multiple congenital anomalies is 13.6% with a percentage similar to the literature. We suggest that the MYT1L, PXDN, TPO, and AUTS2 genes are all strong candidate genes for autism spectrum disorders. We detailed the clinical findings of the cases and reported that some CNV regions in the genome may be associated with autism.en_US
dc.identifier.doi10.4274/MMJ.galenos.2022.70962
dc.identifier.endpage193en_US
dc.identifier.issn2149-2042
dc.identifier.issn2149-4606
dc.identifier.issue2en_US
dc.identifier.pmid35735171en_US
dc.identifier.scopus2-s2.0-85134014880en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage180en_US
dc.identifier.trdizinid534943en_US
dc.identifier.urihttps://doi.org/10.4274/MMJ.galenos.2022.70962
dc.identifier.urihttps://search.trdizin.gov.tr/yayin/detay/534943
dc.identifier.urihttps://hdl.handle.net/20.500.14551/22448
dc.identifier.volume37en_US
dc.identifier.wosWOS:001109587400011en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakTR-Dizinen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherGalenos Publ Houseen_US
dc.relation.ispartofMedeniyet Medical Journalen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectMicroarrayen_US
dc.subjectAutism Spectrum Disordersen_US
dc.subjectAutism Genes And CNV Regionsen_US
dc.subjectCopy-Number Variantsen_US
dc.subjectChromosomal Microarrayen_US
dc.subject3 Membersen_US
dc.subjectIdentificationen_US
dc.subjectDuplicationen_US
dc.subjectDelineationen_US
dc.subjectStandardsen_US
dc.subjectChildrenen_US
dc.subjectDatabaseen_US
dc.titleDiagnostic Value of Microarray Method in Autism Spectrum Disorder, Intellectual Disability, and Multiple Congenital Anomalies and Some Candidate Genes for Autism: Experience of Two Centersen_US
dc.typeArticleen_US

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