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Genome-scan for IQ discrepancy in autism: evidence for loci on chromosomes 10 and 16.

Publication ,  Journal Article
Chapman, NH; Estes, A; Munson, J; Bernier, R; Webb, SJ; Rothstein, JH; Minshew, NJ; Dawson, G; Schellenberg, GD; Wijsman, EM
Published in: Hum Genet
January 2011

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.

Duke Scholars

Published In

Hum Genet

DOI

EISSN

1432-1203

Publication Date

January 2011

Volume

129

Issue

1

Start / End Page

59 / 70

Location

Germany

Related Subject Headings

  • Verbal Behavior
  • Pedigree
  • Middle Aged
  • Microsatellite Repeats
  • Male
  • Intelligence
  • Humans
  • Genome-Wide Association Study
  • Genetics & Heredity
  • Genetic Predisposition to Disease
 

Citation

APA
Chicago
ICMJE
MLA
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Chapman, N. H., Estes, A., Munson, J., Bernier, R., Webb, S. J., Rothstein, J. H., … Wijsman, E. M. (2011). Genome-scan for IQ discrepancy in autism: evidence for loci on chromosomes 10 and 16. Hum Genet, 129(1), 59–70. https://doi.org/10.1007/s00439-010-0899-z
Chapman, Nicola H., Annette Estes, Jeff Munson, Raphael Bernier, Sara J. Webb, Joseph H. Rothstein, Nancy J. Minshew, Geraldine Dawson, Gerard D. Schellenberg, and Ellen M. Wijsman. “Genome-scan for IQ discrepancy in autism: evidence for loci on chromosomes 10 and 16.Hum Genet 129, no. 1 (January 2011): 59–70. https://doi.org/10.1007/s00439-010-0899-z.
Chapman NH, Estes A, Munson J, Bernier R, Webb SJ, Rothstein JH, et al. Genome-scan for IQ discrepancy in autism: evidence for loci on chromosomes 10 and 16. Hum Genet. 2011 Jan;129(1):59–70.
Chapman, Nicola H., et al. “Genome-scan for IQ discrepancy in autism: evidence for loci on chromosomes 10 and 16.Hum Genet, vol. 129, no. 1, Jan. 2011, pp. 59–70. Pubmed, doi:10.1007/s00439-010-0899-z.
Chapman NH, Estes A, Munson J, Bernier R, Webb SJ, Rothstein JH, Minshew NJ, Dawson G, Schellenberg GD, Wijsman EM. Genome-scan for IQ discrepancy in autism: evidence for loci on chromosomes 10 and 16. Hum Genet. 2011 Jan;129(1):59–70.
Journal cover image

Published In

Hum Genet

DOI

EISSN

1432-1203

Publication Date

January 2011

Volume

129

Issue

1

Start / End Page

59 / 70

Location

Germany

Related Subject Headings

  • Verbal Behavior
  • Pedigree
  • Middle Aged
  • Microsatellite Repeats
  • Male
  • Intelligence
  • Humans
  • Genome-Wide Association Study
  • Genetics & Heredity
  • Genetic Predisposition to Disease