title: Genetic variation in the KIAA0319 5' region as a possible contributor to dyslexia.
abstract: Reading disabilities (RD) have been linked and associated with markers on chromosome 6p with results from multiple independent samples pointing to KIAA0319 as a risk gene and specifically, the 5' region of this gene. Here we focus genetic studies on a 2.3 kb region spanning the predicted promoter, the first untranslated exon, and part of the first intron, a region we identified as a region of open chromatin. Using DNA from probands with RD, we screened for genetic variants and tested select variants for association. We identified 17 DNA variants in this sample of probands, 16 of which were previously reported in public databases and one previously identified in a screen of this region. Based on the allele frequencies in the probands compared to public databases, and on possible functional consequences of the variation, we selected seven variants to test for association in a sample of families with RD, in addition to four variants which had been tested previously. We also tested two markers 5' of this region that were previously reported as associated. The strongest evidence for association was observed with alleles of the microsatellite marker located in the first untranslated exon and haplotypes of that marker. These results support previous studies indicating the 5' region of the KIAA0319 gene as the location of risk alleles contributing to RD.
authors.affiliation: Genetics and Development Division, Toronto Western Research Institute, Toronto Western Hospital, University Health Network, MP14-302, 399 Bathurst Street, Toronto, ON M5T 2S8, Canada.
authors.forename: Adrienne
authors.initials: A
authors.lastname: Elbert
authors.forename: Maureen W
authors.initials: MW
authors.lastname: Lovett
authors.forename: Tasha
authors.initials: T
authors.lastname: Cate-Carter
authors.forename: Ashley
authors.initials: A
authors.lastname: Pitch
authors.forename: Elizabeth N
authors.initials: EN
authors.lastname: Kerr
authors.forename: Cathy L
authors.initials: CL
authors.lastname: Barr
mesh_terms: D020121:5' Untranslated Regions / Q000235:genetics*; D000293:Adolescent; D000483:Alleles; D002648:Child; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D004410:Dyslexia / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D014644:Genetic Variation / Q000235:genetics*; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009864:Ontario; D011110:Polymorphism, Genetic / Q000235:genetics
chemical_list: D020121:5' Untranslated Regions; C500377:KIAA0319 protein, human; D009419:Nerve Tissue Proteins