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
Objective: 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 betw...
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| Format: | Article |
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Galenos Publishing House
2022-06-01
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| Series: | Medeniyet Medical Journal |
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| Online Access: | https://jag.journalagent.com/z4/download_fulltext.asp?pdir=medeniyet&un=MEDJ-70962 |
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| author | Akif AYAZ Alper GEZDIRICI Elif YILMAZ GULEC Özge OZALP Abdullah Huseyin KOSEOGLU Zeynep DOGRU Sinem YALCINTEPE |
| author_facet | Akif AYAZ Alper GEZDIRICI Elif YILMAZ GULEC Özge OZALP Abdullah Huseyin KOSEOGLU Zeynep DOGRU Sinem YALCINTEPE |
| author_sort | Akif AYAZ |
| collection | DOAJ |
| description | Objective: 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. |
| format | Article |
| id | doaj-art-51c0e2c9131d4c03b2118965ee1a54e9 |
| institution | Kabale University |
| issn | 2149-2042 2149-4606 |
| language | English |
| publishDate | 2022-06-01 |
| publisher | Galenos Publishing House |
| record_format | Article |
| series | Medeniyet Medical Journal |
| spelling | doaj-art-51c0e2c9131d4c03b2118965ee1a54e92025-01-30T07:13:14ZengGalenos Publishing HouseMedeniyet Medical Journal2149-20422149-46062022-06-0137218019310.4274/MMJ.galenos.2022.70962MEDJ-70962Diagnostic Value of Microarray Method in Autism Spectrum Disorder, Intellectual Disability, and Multiple Congenital Anomalies and Some Candidate Genes for Autism: Experience of Two CentersAkif AYAZ0Alper GEZDIRICI1Elif YILMAZ GULEC2Özge OZALP3Abdullah Huseyin KOSEOGLU4Zeynep DOGRU5Sinem YALCINTEPE6Istanbul Medipol University Faculty of Medicine, Department of Medical Genetics, Istanbul, TurkeyUniversity of Health Sciences Turkey, Basaksehir Cam and Sakura City Hospital, Genetic Diseases Assessment Center, Istanbul, TurkeyIstanbul Medeniyet University Faculty of Medicine, Department of Medical Genetics, Istanbul, TurkeyUniversity of Health Sciences Turkey, Adana City Training and Research Hospital, Genetic Diseases Assessment Center, Adana, TurkeyIstanbul Medipol University, Genetic Diseases Assessment Center, Istanbul, TurkeyIstanbul Medipol University, Genetic Diseases Assessment Center, Istanbul, TurkeyTrakya University Faculty of Medicine, Department of Medical Genetics, Edirne, TurkeyObjective: 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.https://jag.journalagent.com/z4/download_fulltext.asp?pdir=medeniyet&un=MEDJ-70962microarrayautism spectrum disordersautism genes and cnv regions |
| spellingShingle | Akif AYAZ Alper GEZDIRICI Elif YILMAZ GULEC Özge OZALP Abdullah Huseyin KOSEOGLU Zeynep DOGRU Sinem YALCINTEPE 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 Medeniyet Medical Journal microarray autism spectrum disorders autism genes and cnv regions |
| title | 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 |
| title_full | 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 |
| title_fullStr | 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 |
| title_full_unstemmed | 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 |
| title_short | 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 |
| title_sort | 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 |
| topic | microarray autism spectrum disorders autism genes and cnv regions |
| url | https://jag.journalagent.com/z4/download_fulltext.asp?pdir=medeniyet&un=MEDJ-70962 |
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