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Copy Number Variation (CNV) analysis and Next generation Sequencing (NGS), in some Iranian Patients with Autism

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Year: 2018
COI code: CIGS15_017
Paper Language: English

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Authors Copy Number Variation (CNV) analysis and Next generation Sequencing (NGS), in some Iranian Patients with Autism

  Farkhondeh Behjati - Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
  Saghar Ghasemi Firouzabadi - Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
Roxana kariminejad - Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran
  Roshanak Vamegh - Pediatric Neurorehabilitation Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, IR Iran
  Susan Banihashemi - Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
Peyman Jamali - Shahroud Welfare Organization, Shahroud, IR Iran

Abstract:

The autism spectrum disorders (ASDs) are common neurodevelopmental and heterogeneous disorders estimated to affect 1 in 68 children. Genetics plays an important role in its etiology. Copy number variations account for 10-15% in sporadic ASD cases. Next generation sequencing (NGS) is a valuable technique in identifying causative mutations. Materials and Methods We used karyotyping, MLPA (Subtelomeric and Autism kits) and array CGH to detect CNVs in 50 Iranian patients with sporadic non syndromic autism with additional clinical features including intellectual disability, seizure, and craniofacial anomalies. We have also recruited 15 familial non syndromic ASD cases, and have used SNP Array and Whole Exome Sequencing. Results In the sporadic cases, two 0f 50 (4%) patients showed chromosome abnormality including 16p duplication (16p13.11-p13.3) and 15q deletion (15q11.2q13.1). MLPA detected CNVs in 5 patients (10%) both in subtelomeric and interstitial regions. Array CGH was performed for 15 patients. Six out of 15 patients (40%) showed significant CNVs including two pathogenic losses (15q24 and Xq28 microdeletions), and 4 likely pathogenic gains (15q13.3, 7q36.3, Xp22.33 and 10q21.2-21.3 microduplications).In the familial cases, SNP array for homozygous regions, Whole Exome Sequencing (WES) and co segregation analysis are carried out. Conclusion We recommend testing patients with non-familial autism and additional features for CNVs. The NGS analysis for familial ASD patients where monogenic inheritance is indicated, in particular in extended families with affected branch members, can be of great value in identifying the causative mutation in the family.

Keywords:

Autism Spectrum Disorder, CNV, Karyotype, MLPA, Array-CGH, NGS

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COI code: CIGS15_017

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Behjati, Farkhondeh; Saghar Ghasemi Firouzabadi; Roxana kariminejad; Roshanak Vamegh; Susan Banihashemi & Peyman Jamali, 2018, Copy Number Variation (CNV) analysis and Next generation Sequencing (NGS), in some Iranian Patients with Autism, The Third International and 15th National Genetics Congress, تهران, انجمن علمي ژنتيك ايران, https://www.civilica.com/Paper-CIGS15-CIGS15_017.htmlInside the text, wherever referred to or an achievement of this article is mentioned, after mentioning the article, inside the parental, the following specifications are written.
First Time: (Behjati, Farkhondeh; Saghar Ghasemi Firouzabadi; Roxana kariminejad; Roshanak Vamegh; Susan Banihashemi & Peyman Jamali, 2018)
Second and more: (Behjati; Ghasemi Firouzabadi; kariminejad; Vamegh; Banihashemi & Jamali, 2018)
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Type: state university
Paper No.: 848
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