International Journal of Molecular and Cellular Medicine
مجله بین المللی سلولی و مولکولی
Int J Mol Cell Med
Medical Sciences
http://ijmcmed.org
1
admin
2251-9637
2251-9645
10.22088/IJMCM.BUMS
en
jalali
1395
8
1
gregorian
2016
11
1
5
4
online
1
fulltext
en
Analysis of Copy Number Variations in Patients with Autism Using Cytogenetic and MLPA Techniques: Report of 16p13.1p13.3 and 10q26.3 Duplications
Genetics & Disease
Genetics & Disease
Original Article
Original Article
<p style="text-align: justify;">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.</p>
Autism, MLPA, cytogejnetic, 16p13.1p13.3 duplication, 10q26.3 duplication
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245
http://ijmcmed.org/browse.php?a_code=A-10-729-1&slc_lang=en&sid=1
Saghar
Ghasemi Firouzabadi
ghasemisaghar@gmail.com
10031947532846008700
10031947532846008700
No
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Roshanak
Vameghi
10031947532846008701
10031947532846008701
No
Pediatric Neurorehabilitation Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Roxana
Kariminejad
10031947532846008702
10031947532846008702
No
Kariminejad- Najmabadi Pathology and Genetics Center, Tehran, Iran.
Hossein
Darvish
darvish_mg@yahoo.com
10031947532846008703
10031947532846008703
No
Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Susan
Banihashemi
10031947532846008704
10031947532846008704
No
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Mahboubeh
Firouzkouhi Moghaddam
10031947532846008705
10031947532846008705
No
Child and Adolescent Psychiatry Department, Zahedan University of Medical Sciences, Zahedan, Iran.
Peyman
Jamali
10031947532846008706
10031947532846008706
No
Shahroud Welfare Organization, Shahroud, Iran.
Hassan
Farbod Mofidi Tehrani
10031947532846008707
10031947532846008707
No
Health Psychology Department, Edalat University, Tehran, Iran.
Hossein
Dehghani
10031947532846008708
10031947532846008708
No
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Mohammad Reza
Raeisoon
10031947532846008709
10031947532846008709
No
Psychiatry and Behavioral Science Research Center, Department of Social Medicine, Medicine Faculty, Birjand University of Medical Sciences, Birjand, Iran.
Mehrnaz
Narooie-Nejad
10031947532846008710
10031947532846008710
No
Genetics of Non- Communicable Disease Research Center, Zahedan University of Medical Sciences, Zahedan, Iran.
Javad
Jamshidi
10031947532846008711
10031947532846008711
No
Non-Communicable Diseases Research Center, Fasa University of Medical Sciences, Fasa, Iran.
Abbas
Tafakhori
10031947532846008712
10031947532846008712
No
Department of Neurology, School of Medicine, Imam Khomeini Hospital and Iranian Center of Neurological Research, Tehran University of Medical Sciences, Tehran, Iran.
Saeid
Sadabadi
10031947532846008713
10031947532846008713
No
Bahar Education and Rehabilitation Center for the handicapped, Tehran, Iran.
Farkhondeh
Behjati
fbehjati@gmail.com
10031947532846008714
10031947532846008714
Yes
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.