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Novel Submicroscopic Chromosomal Abnormalities Detected in Autism Spectrum Disorder
- Source :
- Biological Psychiatry. 63:1111-1117
- Publication Year :
- 2008
- Publisher :
- Elsevier BV, 2008.
-
Abstract
- Background One genetic mechanism known to be associated with autism spectrum disorders (ASD) is chromosomal abnormalities. The identification of copy number variants (CNV), i.e., microdeletions and microduplications that are undetectable at the level of traditional cytogenetic analysis, allows the potential association of submicroscopic chromosomal imbalances and human disease. Methods We performed array comparative genomic hybridization (aCGH) utilizing a 19K whole genome tiling path bacterial artificial chromosome (BAC) microarray on 397 unrelated subjects with autism spectrum disorder. Common CNV were excluded using a control group comprised of 372 individuals from the National Institute of Mental Health (NIMH) Genetics Initiative Control samples. Confirmation studies were performed on all remaining CNV using fluorescence in situ hybridization (FISH), microsatellite analysis, and/or quantitative polymerase chain reaction (PCR) analysis. Results A total of 51 CNV were confirmed in 46 ASD subjects. Three maternal interstitial duplications of 15q11-q13 known to be associated with ASD were identified. The other 48 CNV ranged in size from 189 kilobase (kb) to 5.5 megabase (Mb) and contained from 0 to ∼40 National Center for Biotechnology Information (NCBI) Reference Sequence (RefSeq) genes. Seven CNV were de novo and 44 were inherited. Conclusions Fifty-one autism-specific CNV were identified in 46 of 397 ASD patients using a 19K BAC microarray for an overall rate of 11.6%. These microdeletions and microduplications cause gene dosage imbalance in 272 genes, many of which could be considered as candidate genes for autism.
- Subjects :
- Male
Chromosomes, Artificial, Bacterial
Candidate gene
Genotype
genetic structures
DNA Mutational Analysis
Gene Dosage
Black People
Biology
Polymerase Chain Reaction
Gene dosage
Article
White People
Gene Duplication
Gene duplication
medicine
Humans
Genetic Predisposition to Disease
Copy-number variation
Autistic Disorder
Child
Alleles
Biological Psychiatry
Oligonucleotide Array Sequence Analysis
Chromosome Aberrations
Genetics
Chromosomes, Human, Pair 15
medicine.diagnostic_test
Genetic Variation
Nucleic Acid Hybridization
medicine.disease
Developmental disorder
Phenotype
Autism
Female
Chromosome Deletion
Fluorescence in situ hybridization
Comparative genomic hybridization
Subjects
Details
- ISSN :
- 00063223
- Volume :
- 63
- Database :
- OpenAIRE
- Journal :
- Biological Psychiatry
- Accession number :
- edsair.doi.dedup.....93a22c86ca64fe8c8d4718035cd079b2