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

作者：Gumuslu Kudret Esen; Savli Hakan^*; Sunnetci Deniz; Cine Naci; Kara Bulent; Eren Keskin Seda; Akkoyunlu Ramis Ufuk

来源：Turkish Journal of Medical Sciences, 2015, 45(2): 313-319.

DOI：10.3906/sag-1310-81

• Autism spectrum disorders
• primary autism
• CGH-array
• deletion

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.

• 出版日期2015