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Analysis of Copy Number Variations in Patients With Autism Using Cytogenetic and Mlpa Techniques: Report of 16P13.1P13.3 and 10Q26.3 Duplications Publisher



Firouzabadi SG1 ; Vameghi R2 ; Kariminejad R3 ; Darvish H4 ; Banihashemi S1 ; Moghaddam MF5, 6 ; Jamali P7 ; Tehrani HFM8 ; Dehghani H1 ; Raeisoon MR9 ; Narooienejad M10 ; Jamshidi J11 ; Tafakhori A12 ; Sadabadi S13 Show All Authors
Authors
  1. Firouzabadi SG1
  2. Vameghi R2
  3. Kariminejad R3
  4. Darvish H4
  5. Banihashemi S1
  6. Moghaddam MF5, 6
  7. Jamali P7
  8. Tehrani HFM8
  9. Dehghani H1
  10. Raeisoon MR9
  11. Narooienejad M10
  12. Jamshidi J11
  13. Tafakhori A12
  14. Sadabadi S13
  15. Behjati F1
Show Affiliations
Authors Affiliations
  1. 1. Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
  2. 2. Pediatric Neurorehabilitation Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
  3. 3. Kariminejad- Najmabadi Pathology and Genetics Center, Tehran, Iran
  4. 4. Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  5. 5. Child and Adolescent Psychiatry Department, Zahedan University of Medical Sciences, Zahedan, Iran
  6. 6. Research Center for Children and Adolescents Health, Zahedan University of Medical Sciences, Zahedan, Iran
  7. 7. Shahroud Welfare Organization, Shahroud, Iran
  8. 8. Health Psychology Department, Edalat University, Tehran, Iran
  9. 9. Psychiatry and Behavioral Science Research Center, Department of Social Medicine, Medicine Faculty, Birjand University of Medical Sciences, Birjand, Iran
  10. 10. Genetics of Non- Communicable Disease Research Center, Zahedan University of Medical Sciences, Zahedan, Iran
  11. 11. Non-Communicable Diseases Research Center, Fasa University of Medical Sciences, Fasa, Iran
  12. 12. Department of Neurology, School of Medicine, Imam Khomeini Hospital and Iranian Center of Neurological Research, Tehran University of Medical Sciences, Tehran, Iran
  13. 13. Bahar Education and Rehabilitation Center for the handicapped, Tehran, Iran

Source: International Journal of Molecular and Cellular Medicine Published:2016


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.
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1. Copy Number Variants in Patients With Autism and Additional Clinical Features: Report of Vipr2 Duplication and a Novel Microduplication Syndrome, Molecular Neurobiology (2017)
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