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Copy Number Variants in Patients With Autism and Additional Clinical Features: Report of Vipr2 Duplication and a Novel Microduplication Syndrome Publisher Pubmed



Firouzabadi SG1 ; Kariminejad R2 ; Vameghi R3 ; Darvish H4 ; Ghaedi H4 ; Banihashemi S1 ; Firouzkouhi Moghaddam M5, 6 ; Jamali P7 ; Mofidi Tehrani HF8 ; Dehghani H1 ; Narooienejad M9 ; Jamshidi J10 ; Tafakhori A11 ; Sadabadi S12 Show All Authors
Authors
  1. Firouzabadi SG1
  2. Kariminejad R2
  3. Vameghi R3
  4. Darvish H4
  5. Ghaedi H4
  6. Banihashemi S1
  7. Firouzkouhi Moghaddam M5, 6
  8. Jamali P7
  9. Mofidi Tehrani HF8
  10. Dehghani H1
  11. Narooienejad M9
  12. Jamshidi J10
  13. Tafakhori A11
  14. Sadabadi S12
  15. Najmabadi H1, 2
  16. Behjati F1

Source: Molecular Neurobiology Published:2017


Abstract

Autism is a common neurodevelopmental disorder estimated to affect 1 in 68 children. Many studies have shown the role of copy number variants (CNVs) as a major contributor in the etiology of autism with the overall detection rate of about 10–15 % and over 20 % when syndromic forms of autism exist. In this study, we used array CGH to identify CNVs in 15 Iranian patients with autism. To elevate our diagnostic yield, we selected the sporadic patients who had additional clinical features including intellectual disability (ID), craniofacial anomaly, and seizure. Six out of 15 patients showed clinically relevant CNVs including pathogenic and likely pathogenic copy number gains or losses. We report a novel gene duplication syndrome (10q21.2q21.3 microduplication) and present a new evidence for VIPR2 duplication, as a candidate gene for autism. Furthermore, we describe the first manifesting carrier female with deletion of SLC6A8 and BCAP31 genes on Xq28. Our findings suggest that there might be a higher prevalence of clinically significant CNVs in patients with autism and additional clinical manifestations. The CNV analysis in such patients could lead to the discovery of novel syndromes as well as unraveling the etiology of autism. © 2016, Springer Science+Business Media New York.
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