Copy number variation characteristics in subpopulations of patients with autism spectrum disorders

2010 ◽  
Vol 156 (2) ◽  
pp. 115-124 ◽  
Author(s):  
Anna Bremer ◽  
MaiBritt Giacobini ◽  
Mats Eriksson ◽  
Peter Gustavsson ◽  
Viviann Nordin ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Copy Number Variation ◽  
Copy Number ◽  
Autism Spectrum ◽  
Number Variation ◽  
Variation Characteristics ◽  
Spectrum Disorders

scholarly journals TU12. COPY NUMBER VARIATION (CNV) IN AUTISM SPECTRUM DISORDERS (ASD) AND CO-OCCURRING EPILEPSY

2021 ◽  
Vol 51 ◽  
pp. e100
Author(s):  
Eline Koornstra ◽  
Evi Hadjimichael ◽  
Byron Ramirez ◽  
Judson Belmont ◽  
Christina Layton ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Copy Number Variation ◽  
Copy Number ◽  
Autism Spectrum ◽  
Number Variation ◽  
Spectrum Disorders

scholarly journals Functional impact of global rare copy number variation in autism spectrum disorders

Nature ◽  
2010 ◽  
Vol 466 (7304) ◽  
pp. 368-372 ◽  
Author(s):  
Dalila Pinto ◽  
Alistair T. Pagnamenta ◽  
Lambertus Klei ◽  
Richard Anney ◽  
Daniele Merico ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Copy Number Variation ◽  
Copy Number ◽  
Autism Spectrum ◽  
Functional Impact ◽  
Number Variation ◽  
Spectrum Disorders

The Role of Copy Number Variation in Psychiatric Disorders

2018 ◽  
pp. 84-95
Author(s):  
Elliott Rees ◽  
George Kirov
Keyword(s):  
Autism Spectrum Disorders ◽  
Copy Number ◽  
Selection Pressure ◽  
Copy Number Variants ◽  
Autism Spectrum ◽  
High Odds ◽  
Strong Selection ◽  
Increase Risk ◽  
Number Variation

Copy number variants (CNVs) are deletions, duplications, inversions, or translocations of large DNA segments. They can play a significant role in human disease. Thirteen CNVs have received strong statistical support for involvement in schizophrenia. They are all rare in cases (<1%), much rarer among controls, and have high odds ratios (ORs) for causing disease. The same CNVs also increase risk for autism spectrum disorders, developmental delay, and medical/physical comorbidities. The penetrance of these CNVs for any disorder is relatively high, ranging from 10% for 15q11.2 deletions to nearly 100% for deletions at 22q11.2. Strong selection pressure operates against carriers of these CNVs. Most of these are formed by non-allelic homologous recombination (NAHR), which leads to high mutation rates, thus maintaining the rates of these CNVs in the general population, despite the strong selection forces.

Copy number variation findings among 50 children and adolescents with autism spectrum disorder

2013 ◽  
Vol 23 (2) ◽  
pp. 61-69 ◽  
Author(s):  
Hanne S. Sorte ◽  
Elen Gjevik ◽  
Eili Sponheim ◽  
Kristin L. Eiklid ◽  
Olaug K. Rødningen
Keyword(s):  
Autism Spectrum Disorder ◽  
Copy Number Variation ◽  
Children And Adolescents ◽  
Copy Number ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Adolescents With Autism ◽  
Number Variation
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