Article Publish Status: FREE
Abstract Title:

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

Abstract Source:

Turk J Med Sci. 2015 ;45(2):313-9. PMID: 26084120

Abstract Author(s):

Kudret Esen Gümüşlü, Hakan Savli, Deniz Sünnetçi, Naci Çine, Bülent Kara, Seda Eren Keskin, Ramis Ufuk Akkoyunlu

Article Affiliation:

Kudret Esen Gümüşlü


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, 2q2l.1q21.2, and 8p23.1 loci are potential predisposition and new suspicious regions for primary autism. Deletion's in these regions should be investigated in further studies to understand pathogenesis of primary autism.

Study Type : Human Study

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