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:: Volume 5, Number 4 (Int J Mol Cell Med 2016) ::
Int J Mol Cell Med 2016, 5(4): 236-245 Back to browse issues page
Analysis of Copy Number Variations in Patients with Autism Using Cytogenetic and MLPA Techniques: Report of 16p13.1p13.3 and 10q26.3 Duplications
Saghar Ghasemi Firouzabadi1, Roshanak Vameghi2, Roxana Kariminejad3, Hossein Darvish4, Susan Banihashemi1, Mahboubeh Firouzkouhi Moghaddam5, Peyman Jamali6, Hassan Farbod Mofidi Tehrani7, Hossein Dehghani1, Mohammad Reza Raeisoon8, Mehrnaz Narooie-Nejad9, Javad Jamshidi10, Abbas Tafakhori11, Saeid Sadabadi12, Farkhondeh Behjati *13
1- Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
2- Pediatric Neurorehabilitation Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Pediatric Neurorehabilitation Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
3- Kariminejad- Najmabadi Pathology and Genetics Center, Tehran, Iran., Kariminejad- Najmabadi Pathology and Genetics Center, Tehran, Iran.
4- Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
5- Child and Adolescent Psychiatry Department, Zahedan University of Medical Sciences, Zahedan, Iran., Child and Adolescent Psychiatry Department, Zahedan University of Medical Sciences, Zahedan, Iran.v
6- Shahroud Welfare Organization, Shahroud, Iran., Shahroud Welfare Organization, Shahroud, Iran.
7- Health Psychology Department, Edalat University, Tehran, Iran., Health Psychology Department, Edalat University, Tehran, Iran.
8- Psychiatry and Behavioral Science Research Center, Department of Social Medicine, Medicine Faculty, Birjand University of Medical Sciences, Birjand, Iran., Psychiatry and Behavioral Science Research Center, Department of Social Medicine, Medicine Faculty, Birjand University of Medical Sciences, Birjand, Iran.
9- Genetics of Non- Communicable Disease Research Center, Zahedan University of Medical Sciences, Zahedan, Iran., Genetics of Non- Communicable Disease Research Center, Zahedan University of Medical Sciences, Zahedan, Iran.
10- Non-Communicable Diseases Research Center, Fasa University of Medical Sciences, Fasa, Iran., Non-Communicable Diseases Research Center, Fasa University of Medical Sciences, Fasa, Iran.
11- Department of Neurology, School of Medicine, Imam Khomeini Hospital and Iranian Center of Neurological Research, Tehran University of Medical Sciences, Tehran, Iran., Department of Neurology, School of Medicine, Imam Khomeini Hospital and Iranian Center of Neurological Research, Tehran University of Medical Sciences, Tehran, Iran.
12- Bahar Education and Rehabilitation Center for the handicapped, Tehran, Iran., Bahar Education and Rehabilitation Center for the handicapped, Tehran, Iran.
13- Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran. , fbehjati@gmail.com
Abstract:   (913 Views)

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.

Keywords: Autism, MLPA, cytogejnetic, 16p13.1p13.3 duplication, 10q26.3 duplication
Full-Text [PDF 235 kb]   (479 Downloads)    
Type of Study: Original Article | Subject: Genetics & Disease
Received: 2016/09/25 | Accepted: 2016/10/4 | Published: 2016/12/5
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DOI: 10.22088/acadpub.BUMS.5.4.236


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Ghasemi Firouzabadi S, Vameghi R, Kariminejad R, Darvish H, Banihashemi S, Firouzkouhi Moghaddam M, et al . Analysis of Copy Number Variations in Patients with Autism Using Cytogenetic and MLPA Techniques: Report of 16p13.1p13.3 and 10q26.3 Duplications. Int J Mol Cell Med. 2016; 5 (4) :236-245
URL: http://ijmcmed.org/article-1-594-en.html
Volume 5, Number 4 (Int J Mol Cell Med 2016) Back to browse issues page
International Journal of Molecular and Cellular Medicine (IJMCM) International Journal of Molecular and Cellular Medicine (IJMCM)
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