Analysis of genetic risk factors for autistic disorder on Chromosome 7

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.

Duke Scholars

Author Allison Elizabeth Ashley-Koch Medicine, Nephrology