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

Authors: KUDRET ESEN GÜMÜŞLÜ, HAKAN SAVLI, DENİZ SÜNNETÇİ, NACİ ÇİNE, BÜLENT KARA, SEDA EREN KESKİN, RAMİS UFUK AKKOYUNLU

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.

Keywords: Autism spectrum disorders, primary autism, CGH-array, deletion

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