| چکیده انگلیسی مقاله |
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. |
| نویسندگان مقاله |
ساغر قاسمی فیروز آبادی | saghar ghasemi firouzabadi
genetics research center, university of social welfare and rehabilitation sciences, tehran, iran.
سازمان اصلی تایید شده: دانشگاه علوم بهزیستی و توانبخشی (University of social welfare and rehabilitation sciences)
روشنک وامقی | roshanak vameghi
pediatric neurorehabilitation research center, university of social welfare and rehabilitation sciences, tehran, iran.
سازمان اصلی تایید شده: دانشگاه علوم بهزیستی و توانبخشی (University of social welfare and rehabilitation sciences)
رکسانا کریمی نژاد | roxana kariminejad
kariminejad- najmabadi pathology and genetics center, tehran, iran.
حسین درویش | hossein darvish
department of medical genetics, school of medicine, shahid beheshti university of medical sciences, tehran, iran.
سازمان اصلی تایید شده: دانشگاه علوم پزشکی شهید بهشتی (Shahid beheshti university of medical sciences)
سوسن بنی هاشمی | susan banihashemi
genetics research center, university of social welfare and rehabilitation sciences, tehran, iran.
سازمان اصلی تایید شده: دانشگاه علوم بهزیستی و توانبخشی (University of social welfare and rehabilitation sciences)
محبوبه فیروزکوهی | mahboubeh firouzkouhi moghaddam
child and adolescent psychiatry department, zahedan university of medical sciences, zahedan, iran.v
سازمان اصلی تایید شده: دانشگاه علوم پزشکی زاهدان (Zahedan university of medical sciences)
پیمان جمالی | peyman jamali
shahroud welfare organization, shahroud, iran.
حسن فربد مفیدی تهرانی | hassan farbod mofidi tehrani
health psychology department, edalat university, tehran, iran.
حسین دهقانی | hossein dehghani
genetics research center, university of social welfare and rehabilitation sciences, tehran, iran.
سازمان اصلی تایید شده: دانشگاه علوم بهزیستی و توانبخشی (University of social welfare and rehabilitation sciences)
محمدرضا رییسون | mohammad reza raeisoon
psychiatry and behavioral science research center, department of social medicine, medicine faculty, birjand university of medical sciences, birjand, iran.
سازمان اصلی تایید شده: دانشگاه علوم پزشکی بیرجند (Birjand university of medical sciences)
مهرناز نارویی نژاد | mehrnaz narooie nejad
genetics of non- communicable disease research center, zahedan university of medical sciences, zahedan, iran.
سازمان اصلی تایید شده: دانشگاه علوم پزشکی زاهدان (Zahedan university of medical sciences)
جواد جمشیدی | javad jamshidi
non-communicable diseases research center, fasa university of medical sciences, fasa, iran.
سازمان اصلی تایید شده: دانشگاه علوم پزشکی فسا (Fasa university of medical sciences)
عباس تفاخری | abbas tafakhori
department of neurology, school of medicine, imam khomeini hospital and iranian center of neurological research, tehran university of medical sciences, tehran, iran.
سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (Tehran university of medical sciences)
سعید سعدآبادی | saeid sadabadi
bahar education and rehabilitation center for the handicapped, tehran, iran.
فرخنده بهجتی | farkhondeh behjati
genetics research center, university of social welfare and rehabilitation sciences, tehran, iran.
سازمان اصلی تایید شده: دانشگاه علوم بهزیستی و توانبخشی (University of social welfare and rehabilitation sciences)
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