title: Copy Number Variants in Patients with Autism and Additional Clinical Features: Report of VIPR2 Duplication and a Novel Microduplication Syndrome.
abstract: Autism is a common neurodevelopmental disorder estimated to affect 1 in 68 children. Many studies have shown the role of copy number variants (CNVs) as a major contributor in the etiology of autism with the overall detection rate of about 10-15 % and over 20 % when syndromic forms of autism exist. In this study, we used array CGH to identify CNVs in 15 Iranian patients with autism. To elevate our diagnostic yield, we selected the sporadic patients who had additional clinical features including intellectual disability (ID), craniofacial anomaly, and seizure. Six out of 15 patients showed clinically relevant CNVs including pathogenic and likely pathogenic copy number gains or losses. We report a novel gene duplication syndrome (10q21.2q21.3 microduplication) and present a new evidence for VIPR2 duplication, as a candidate gene for autism. Furthermore, we describe the first manifesting carrier female with deletion of SLC6A8 and BCAP31 genes on Xq28. Our findings suggest that there might be a higher prevalence of clinically significant CNVs in patients with autism and additional clinical manifestations. The CNV analysis in such patients could lead to the discovery of novel syndromes as well as unraveling the etiology of autism.
authors: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
authors: Saghar Ghasemi
authors: SG
authors: Firouzabadi
authors: Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.
authors: Roxana
authors: R
authors: Kariminejad
authors: Pediatric Neurorehabilitation Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
authors: Roshanak
authors: R
authors: Vameghi
authors: Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors: Hossein
authors: H
authors: Darvish
authors: Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors: Hamid
authors: H
authors: Ghaedi
authors: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
authors: Susan
authors: S
authors: Banihashemi
authors: Child and Adolescent Psychiatry Department, Zahedan University of Medical Sciences, Zahedan, Iran.|Research Center for Children and Adolescents Health, Zahedan University of Medical Sciences, Zahedan, Iran.
authors: Mahboubeh
authors: M
authors: Firouzkouhi Moghaddam
authors: Shahroud Welfare Organization, Shahroud, Iran.
authors: Peyman
authors: P
authors: Jamali
authors: Health Psychology Department, Edalat University, Tehran, Iran.
authors: Hassan Farbod
authors: HF
authors: Mofidi Tehrani
authors: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
authors: Hossein
authors: H
authors: Dehghani
authors: Genetics of Non-communicable Disease Research Center, Zahedan University of Medical Sciences, Zahedan, Iran.
authors: Mehrnaz
authors: M
authors: Narooie-Nejad
authors: Noncommunicable Diseases Research Center, Fasa University of Medical Sciences, Fasa, Iran.
authors: Javad
authors: J
authors: Jamshidi
authors: Department of Neurology, School of Medicine, Imam Khomeini Hospital and Iranian Center of Neurological Research, Tehran University of Medical Sciences, Tehran, Iran.
authors: Abbas
authors: A
authors: Tafakhori
authors: Bahar Education and Rehabilitation Center for the handicapped, Tehran, Iran.
authors: Saeid
authors: S
authors: Sadabadi
authors: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.|Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.
authors: Hossein
authors: H
authors: Najmabadi
authors: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran. f_behjati@uswr.ac.ir.
authors: Farkhondeh
authors: F
authors: Behjati
mesh_terms: D001321:Autistic Disorder / Q000235:genetics*; D056915:DNA Copy Number Variations / Q000235:genetics*; D020440:Gene Duplication; D006801:Humans; D051239:Receptors, Vasoactive Intestinal Peptide, Type II / Q000235:genetics*; D013577:Syndrome
chemical_list: D051239:Receptors, Vasoactive Intestinal Peptide, Type II; C495509:VIPR2 protein, human
keywords: 10q21.2q21.3 microduplication; ASMTL; Array CGH; Autism; BCAP31; CHRNA7; CNV; GPRIN2; Iran; SLC6A8; VIPR2