Journal article
Novel copy number variants in children with autism and additional developmental anomalies
Journal of neurodevelopmental disorders, Vol.1(4), pp.292-301
12/2009
DOI: 10.1007/s11689-009-9013-z
PMCID: PMC3164008
PMID: 21547721
Abstract
Autism is a neurodevelopmental disorder characterized by three core symptom domains: ritualistic-repetitive behaviors, impaired social interaction, and impaired communication and language development. Recent studies have highlighted etiologically relevant recurrent copy number changes in autism, such as 16p11.2 deletions and duplications, as well as a significant role for unique, novel variants. We used Affymetrix 250K GeneChip Microarray technology (either
Nsp
I or
Sty
I) to detect microdeletions and duplications in a subset of children from the Autism Genetic Resource Exchange (AGRE). In order to enrich our sample for potentially pathogenic CNVs we selected children with autism who had additional features suggestive of chromosomal loss associated with developmental disturbance (positive criteria filter) but who had normal cytogenetic testing (negative criteria filter). We identified families with the following features: at least one child with autism who also had facial dysmorphology, limb or digit abnormalities, or ocular abnormalities. To detect changes in copy number we used a publicly available program, Copy Number Analyser for GeneChip® (CNAG) Ver. 2.0. We identified novel deletions and duplications on chromosomes 1q24.2, 3p26.2, 4q34.2, and 6q24.3. Several of these deletions and duplications include new and interesting candidate genes for autism such as syntaxin binding protein 5 (
STXBP5
also known as
tomosyn
) and leucine rich repeat neuronal 1 (
LRRN1
also known as
NLRR1
). Lastly, our data suggest that rare and potentially pathogenic microdeletions and duplications may have a substantially higher prevalence in children with autism and additional developmental anomalies than in children with autism alone.
Details
- Title: Subtitle
- Novel copy number variants in children with autism and additional developmental anomalies
- Creators
- L. K Davis - Interdisciplinary Genetics Program, University of Iowa, Iowa City, IA 52242 USAK. J Meyer - Interdisciplinary Genetics Program, University of Iowa, Iowa City, IA 52242 USAD. S Rudd - Department of Psychiatry, University of Iowa, Carver College of Medicine, Iowa City, IA 52242 USAA. L Librant - Department of Psychiatry, University of Iowa, Carver College of Medicine, Iowa City, IA 52242 USAE. A Epping - Department of Psychiatry, University of Iowa, Carver College of Medicine, Iowa City, IA 52242 USAV. C Sheffield - Howard Hughes Medical Institute, University of Iowa, Iowa City, IA 52242 USAT. H Wassink - Interdisciplinary Genetics Program, University of Iowa, Iowa City, IA 52242 USA
- Resource Type
- Journal article
- Publication Details
- Journal of neurodevelopmental disorders, Vol.1(4), pp.292-301
- DOI
- 10.1007/s11689-009-9013-z
- PMID
- 21547721
- PMCID
- PMC3164008
- NLM abbreviation
- J Neurodev Disord
- ISSN
- 1866-1947
- eISSN
- 1866-1955
- Publisher
- Springer US; Boston
- Language
- English
- Date published
- 12/2009
- Academic Unit
- Molecular Physiology and Biophysics; Psychiatry; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
- Record Identifier
- 9984004183002771
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