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Journals / Turkish Journal of Medical Sciences / 2015 / Cilt: 45 - Sayı: 2

A CGH array study in nonsyndromic (primary) autism patients: deletions on 16p13.11, 16p11.2, 1q21.1, 2q21.1q21.2, and 8p23.1

KUDRET ESEN GÜMÜŞLÜ
HAKAN SAVLI
DENİZ SÜNNETÇİ
NACİ ÇİNE
BÜLENT KARA
SEDA EREN KESKİN
RAMİS UFUK AKKOYUNLU
Pages
313–319
Publication Date
2015-08-13
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Deletions in these regions should be investigated in further studies to understand pathogenesis of primary autism.

📌 3 Key Takeaways

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Objective & Hypothesis:Background/aim: To detect specific molecular changes of DNA level in primary autism patients by using whole genome CGH array technology.
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Key Findings & Data:Materials and methods: A cohort of 35 primary autism patients received clinical genetic testing by using an oligonucleotide-based CGH array platform to test for submicroscopic genomic deletions and duplications.
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Conclusion & Impact:Deletions in these regions should be investigated in further studies to understand pathogenesis of primary autism.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Autism spectrum disorders · primary autism · CGH-array

Abstract

Background/aim: To detect specific molecular changes of DNA level in primary autism patients by using whole genome CGH array technology. Materials and methods: A cohort of 35 primary autism patients received clinical genetic testing by using an oligonucleotide-based CGH array platform to test for submicroscopic genomic deletions and duplications. Fluorescent in situ hybridization was performed in seven patients for confirmation of the results. Results: We found 16p13.11 deletion in thirteen patients, 16p11.2 deletion in twelve patients, 1q21.1 deletion in ten patients, 2q21.1q21.2 deletion in eight patients, and 8p23.1 deletion in seven patients. Conclusion: Our study indicates that genes in 16p13.11, 16p11.2, 1q21.1, 2q21.1q21.2, and 8p23.1 loci are potential predisposition and new suspicious regions for primary autism. Deletions in these regions should be investigated in further studies to understand pathogenesis of primary autism.

Özet

Background/aim: To detect specific molecular changes of DNA level in primary autism patients by using whole genome CGH array technology. Materials and methods: A cohort of 35 primary autism patients received clinical genetic testing by using an oligonucleotide-based CGH array platform to test for submicroscopic genomic deletions and duplications. Fluorescent in situ hybridization was performed in seven patients for confirmation of the results. Results: We found 16p13.11 deletion in thirteen patients, 16p11.2 deletion in twelve patients, 1q21.1 deletion in ten patients, 2q21.1q21.2 deletion in eight patients, and 8p23.1 deletion in seven patients. Conclusion: Our study indicates that genes in 16p13.11, 16p11.2, 1q21.1, 2q21.1q21.2, and 8p23.1 loci are potential predisposition and new suspicious regions for primary autism. Deletions in these regions should be investigated in further studies to understand pathogenesis of primary autism.

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Cite This Article

GÜMÜŞLÜ, K. E., SAVLI, H., SÜNNETÇİ, D., ÇİNE, N., KARA, B., KESKİN, S. E., AKKOYUNLU, R. U. (2015). A CGH array study in nonsyndromic (primary) autism patients: deletions on 16p13.11, 16p11.2, 1q21.1, 2q21.1q21.2, and 8p23.1. Turkish Journal of Medical Sciences, Cilt: 45 - Sayı: 2, 313–319. https://ajindex.com/articles/114003

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