title: Analysis of Copy Number Variations in Patients with Autism Using Cytogenetic and MLPA Techniques: Report of 16p13.1p13.3 and 10q26.3 Duplications.
abstract: Autism is a common neuropsychiatric disorder affecting 1 in 68 children. Copy number variations (CNVs) are known to be major contributors of autism spectrum disorder (ASD). There are different whole genome or targeted techniques to identify CNVs in the patients including karyotyping, multiplex ligation-dependent probe amplification (MLPA) and array CGH. In this study, we used karyotyping and MLPA to detect CNVs in 50 Iranian patients with autism. GTG banding and 4 different MLPA kits (2 subtelomeric and 2 autism kits) were utilized. To elevate our detection rate, we selected the sporadic patients who had additional clinical features including intellectual disability, seizure, attention deficit hyperactivity disorder, and abnormal head circumference. Two out of 50 patients (4%) showed microscopic chromosome abnormalities and 5 out of 50 (10%) demonstrated copy number gains or losses using MLPA kits. Including one overlapping result between karyotype and MLPA techniques, our overall detection rate was 6 out of 50 (12%). Three out of 6 CNVs were de novo and three others were paternally inherited. Two of CNVs detected by karyotyping and MLPA tests were 16p13.1q13.3 and 10q26.3 duplications, respectively. For these two CNVs genotype and phenotype of the patients were compared with other studies. Although the pathogenicity of cytogenetic results was certain, most of MLPA results needed to be better refined using other more accurate techniques such as array CGH. Our findings suggest that it might be possible to obtain some useful information using MLPA technique but it cannot be used as a single diagnostic tool for the autism.
authors.affiliation: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
authors.forename: Saghar
authors.initials: S
authors.lastname: Ghasemi Firouzabadi
authors.affiliation: Pediatric Neurorehabilitation Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
authors.forename: Roshanak
authors.initials: R
authors.lastname: Vameghi
authors.affiliation: Kariminejad- Najmabadi Pathology and Genetics Center, Tehran, Iran.
authors.forename: Roxana
authors.initials: R
authors.lastname: Kariminejad
authors.affiliation: Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Hossein
authors.initials: H
authors.lastname: Darvish
authors.affiliation: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
authors.forename: Susan
authors.initials: S
authors.lastname: Banihashemi
authors.affiliation: 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.forename: Mahboubeh
authors.initials: M
authors.lastname: Firouzkouhi Moghaddam
authors.affiliation: Shahroud Welfare Organization, Shahroud, Iran.
authors.forename: Peyman
authors.initials: P
authors.lastname: Jamali
authors.affiliation: Health Psychology Department, Edalat University, Tehran, Iran.
authors.forename: Hassan
authors.initials: H
authors.lastname: Farbod Mofidi Tehrani
authors.affiliation: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
authors.forename: Hossein
authors.initials: H
authors.lastname: Dehghani
authors.affiliation: Psychiatry and Behavioral Science Research Center, Department of Social Medicine, Medicine Faculty, Birjand University of Medical Sciences, Birjand, Iran.
authors.forename: Mohammad Reza
authors.initials: MR
authors.lastname: Raeisoon
authors.affiliation: Genetics of Non- Communicable Disease Research Center, Zahedan University of Medical Sciences, Zahedan, Iran.
authors.forename: Mehrnaz
authors.initials: M
authors.lastname: Narooie-Nejad
authors.affiliation: Non-Communicable Diseases Research Center, Fasa University of Medical Sciences, Fasa, Iran.
authors.forename: Javad
authors.initials: J
authors.lastname: Jamshidi
authors.affiliation: Department of Neurology, School of Medicine, Imam Khomeini Hospital and Iranian Center of Neurological Research, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Abbas
authors.initials: A
authors.lastname: Tafakhori
authors.affiliation: Bahar ducation and Rehabilitation Center for the handicapped, Tehran, Iran.
authors.forename: Saeid
authors.initials: S
authors.lastname: Sadabadi
authors.affiliation: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
authors.forename: Farkhondeh
authors.initials: F
authors.lastname: Behjati
keywords: 10q26.3 duplication; 16p13.1p13.3 duplication; Autism; MLPA; cytogejnetic