Analysis of genetic risk factors for autistic disorder on Chromosome 7

P. A. McCoy, S. Shao, C. M. Wolpert, S. L. Donnelly, A. Ashley-Koch, John Gilbert, Margaret A Pericak-Vance

Research output: Contribution to journalArticle

Abstract

Several genomic screening efforts have indicated the presence of an autistic disorder (AutD) susceptibility locus within the distal long arm of human Chromosome 7. Recent reports (Wassink et al., 2001; Persico et al., 2001) suggest two genes, WNT2 at 7q31 and RELN at 7q22, influence genetic risk in AutD. We tested for genetic association of two WNT2 variants in the 5UTR and 3TR regions of WNT2 in 135 singleton and 82 multiplex families. No significant association was found between AutD and the WNT2 genotypes. We also screened the coding region of WNT2 for two reported autism mutations (TG mutation in the signal domain of Exon 1 of WNT2 produced Leu5Arg and a CT mutation in Exon 5 produced Arg299Trp) and failed to identify these WNT2 mutations in our data set. Our data suggests that the WNT2 gene is not major contributor to genetic risk in AutD. Analysis of RELN is in progress using a combination of SNPs and a 5UTR repeat.

Original languageEnglish
Pages (from-to)631-632
Number of pages2
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Volume105
Issue number7
StatePublished - Oct 8 2001
Externally publishedYes

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Chromosomes, Human, Pair 7
Autistic Disorder
Mutation
Exons
Human Chromosomes
Genes
Single Nucleotide Polymorphism
Genotype

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuropsychology and Physiological Psychology
  • Neuroscience(all)

Cite this

McCoy, P. A., Shao, S., Wolpert, C. M., Donnelly, S. L., Ashley-Koch, A., Gilbert, J., & Pericak-Vance, M. A. (2001). Analysis of genetic risk factors for autistic disorder on Chromosome 7. American Journal of Medical Genetics - Neuropsychiatric Genetics, 105(7), 631-632.

Analysis of genetic risk factors for autistic disorder on Chromosome 7. / McCoy, P. A.; Shao, S.; Wolpert, C. M.; Donnelly, S. L.; Ashley-Koch, A.; Gilbert, John; Pericak-Vance, Margaret A.

In: American Journal of Medical Genetics - Neuropsychiatric Genetics, Vol. 105, No. 7, 08.10.2001, p. 631-632.

Research output: Contribution to journalArticle

McCoy, PA, Shao, S, Wolpert, CM, Donnelly, SL, Ashley-Koch, A, Gilbert, J & Pericak-Vance, MA 2001, 'Analysis of genetic risk factors for autistic disorder on Chromosome 7', American Journal of Medical Genetics - Neuropsychiatric Genetics, vol. 105, no. 7, pp. 631-632.
McCoy PA, Shao S, Wolpert CM, Donnelly SL, Ashley-Koch A, Gilbert J et al. Analysis of genetic risk factors for autistic disorder on Chromosome 7. American Journal of Medical Genetics - Neuropsychiatric Genetics. 2001 Oct 8;105(7):631-632.
McCoy, P. A. ; Shao, S. ; Wolpert, C. M. ; Donnelly, S. L. ; Ashley-Koch, A. ; Gilbert, John ; Pericak-Vance, Margaret A. / Analysis of genetic risk factors for autistic disorder on Chromosome 7. In: American Journal of Medical Genetics - Neuropsychiatric Genetics. 2001 ; Vol. 105, No. 7. pp. 631-632.
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