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

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

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.

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