Strong Association of De Novo Copy Number Mutations with Autism
Feinstein Institute for Medical Research · Emory University · +5 more institutions
Abstract
We tested the hypothesis that de novo copy number variation (CNV) is associated with autism spectrum disorders (ASDs). We performed comparative genomic hybridization (CGH) on the genomic DNA of patients and unaffected subjects to detect copy number variants not present in their respective parents. Candidate genomic regions were validated by higher-resolution CGH, paternity testing, cytogenetics, fluorescence in situ hybridization, and microsatellite genotyping. Confirmed de novo CNVs were significantly associated with autism (P = 0.0005). Such CNVs were identified in 12 out of 118 (10%) of patients with sporadic autism, in 2 out of 77 (3%) of patients with an affected first-degree relative, and in 2 out of 196…
Citation impact
- FWCI
- 133.81
- Percentile
- 100%
- References
- 33
Authors
32- JSJonathan SebatCorresponding
Feinstein Institute for Medical Research, Emory University, University of Washington, Cold Spring Harbor Laboratory, National Institute of Mental Health
- BLB. Lakshmi
Feinstein Institute for Medical Research, Emory University, University of Washington, Cold Spring Harbor Laboratory, National Institute of Mental Health
- DMDheeraj MalhotraCorresponding
Feinstein Institute for Medical Research, Emory University, University of Washington, Cold Spring Harbor Laboratory, National Institute of Mental Health
- JTJennifer TrogeCorresponding
Feinstein Institute for Medical Research, Emory University, University of Washington, Cold Spring Harbor Laboratory, National Institute of Mental Health
- CLChrista Lese‐Martin
Feinstein Institute for Medical Research, Emory University, University of Washington, Cold Spring Harbor Laboratory, National Institute of Mental Health
Topics & keywords
- Copy-number variation
- Comparative genomic hybridization
- Genetics
- Autism
- Biology
- Genotyping
- Germline
- Cytogenetics
- Good health and well-being