Genome-scan for IQ discrepancy in autism: evidence for loci on chromosomes 10 and 16
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Performance IQ (PIQ) greater than verbal IQ (VIQ) is often observed in studies of the cognitive abilities of autistic individuals. This characteristic is correlated with social and communication impairments, key parts of the autism diagnosis. We present the first genetic analyses of IQ discrepancy (PIQ-VIQ) as an autism-related phenotype. We performed genome-wide joint linkage and segregation analyses on 287 multiplex families, using a Markov chain Monte Carlo approach. Genetic data included a genome-scan of 387 micro-satellite markers in 210 families augmented with additional markers added in a subset of families. Empirical P values were calculated for five interesting regions. Linkage analysis identified five chromosomal regions with substantial regional evidence of linkage; 10p12 [P = 0.001; genome-wide (gw) P = 0.05], 16q23 (P = .015; gw P = 0.53), 2p21 (P = 0.03, gw P = 0.78), 6q25 (P = 0.047, gw P = 0.91) and 15q23-25 (P = 0.053, gw P = 0.93). The location of the chromosome 10 linkage signal coincides with a region noted in a much earlier genome-scan for autism, and the chromosome 16 signal coincides exactly with a linkage signal for non-word repetition in specific language impairment. This study provides strong evidence for a QTL influencing IQ discrepancy in families with autistic individuals on chromosome 10, and suggestive evidence for a QTL on chromosome 16. The location of the chromosome 16 signal suggests a candidate gene, CDH13, a T-cadherin expressed in the brain, which has been implicated in previous SNP studies of autism and ADHD.
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This IQ split profile might be associated with particular genetic loci and neurophysiological features in ASD.
“The profile may be linked to specific genetic loci 26 and neurophysiological differences 27 in ASD.”
From Parsing Heterogeneity in Autism Spectrum Disorders: Visual Scanning of Dynamic Social Scenes in School-Aged Children (2012) · cites this paper as [26]
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- Authors
- Chapman, N. H., Estes, A., Munson, J., Bernier, R., Webb, S. J., Rothstein, J. H., Minshew, N. J., Dawson, G., Schellenberg, G. D., & Wijsman, E. M.
- Affiliations
- University of Washington (US)
- University of Pittsburgh (US)
- University of Pennsylvania (US)
- Corresponding author
- Wijsman, Ellen M.
- ORCID
- Venue
- Human Genetics
- Published
- 2010-10-21
- Volume
- 129
- Issue
- 1
- Pages
- 59-70
- ISSN
- 0018-7348 (ISSN-L)
- 0340-6717
- 1432-1203
- PMC
- PMC3082447
- OpenAlex
- W2166524246
- Cited by
- 55
- References
- 83
- Citations by year
- 2026: 1 · 2025: 3 · 2024: 1 · 2023: 2 · 2022: 1 · 2021: 3 · 2020: 2 · 2018: 7 · 2017: 5 · 2016: 6 · 2015: 5 · 2014: 4 · 2013: 6 · 2012: 7
- FWCI
- 2.91
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Human Genetics (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Carolina Digital Repository (University of North Carolina at Chapel Hill) (submittedVersion)
- UNC Libraries
- Funders
- Autism Speaks
- Johns Hopkins University
- National Institutes of Health
- National Human Genome Research Institute (HHSN268200782096C)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (P50HD055782, P50HD055748, HD055782)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- autism spectrum disorder, IQ discrepancy, performance IQ, verbal IQ, linkage analysis, segregation analysis, chromosome 10, chromosome 16, quantitative trait loci, CDH13, T-cadherin, specific language impairment, non-word repetition, multiplex families, microsatellite markers
- MeSH terms
- Adult, Autistic Disorder, Child, Chromosomes, Human, Pair 10, Chromosomes, Human, Pair 16, Female, Humans, Intelligence, Male, Middle Aged, Pedigree, Verbal Behavior, Cadherins, Microsatellite Repeats, Genetic Predisposition to Disease, Genome-Wide Association Study, Genetic Loci
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