title: No evidence for IL1RAPL1 involvement in selected high-risk autism pedigrees from the AGRE data set.
abstract: Finding predisposition genes for Autism Spectrum Disorder (ASD) has proven challenging, and new methods are needed to aid the process. Using pedigree structure as a strategy to identify ASD predisposition genes, we previously performed a genome-wide linkage scan of 86 selected families from the Autism Resource Exchange (AGRE) that appeared to inherit ASD in a dominant manner. We identified a suggestive linkage peak on chromosome Xp22.11-p21.2 that encompasses the IL1RAPL1 gene, a strong candidate gene for ASD. In this follow-up study, we sequenced the coding regions of the IL1RAPL1 gene in 14 male cases representing one case from each pedigree that showed at least nominal linkage evidence on per pedigree basis to the chromosome X region. We observed no deleterious mutations or deletions in the IL1RAPL1 gene in these 14 ASD cases. A SNP was identified in exon 2 in five cases and a variant of unknown significance was identified in intron 6 in a single case. In conclusion, coding changes of the IL1RAPL1 gene do not appear to be associated with ASD in selected AGRE families with linkage evidence to the chromosome Xp22.11-p21.2 region.
authors.affiliation: Utah ASD Research Project, Department of Psychiatry, University of Utah, Salt Lake City, Utah 84108, USA. kristina.allen@utah.edu
authors.forename: Kristina
authors.initials: K
authors.lastname: Allen-Brady
authors.forename: Guiqing
authors.initials: G
authors.lastname: Cai
authors.forename: Dale
authors.initials: D
authors.lastname: Cannon
authors.forename: Reid
authors.initials: R
authors.lastname: Robison
authors.forename: William M
authors.initials: WM
authors.lastname: McMahon
authors.forename: Hilary
authors.initials: H
authors.lastname: Coon
authors.forename: Joseph D
authors.initials: JD
authors.lastname: Buxbaum
mesh_terms: D002648:Child; D002659:Child Development Disorders, Pervasive / Q000235:genetics*; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D053577:Interleukin-1 Receptor Accessory Protein / Q000235:genetics*; D007438:Introns / Q000235:genetics; D015810:Linkage Disequilibrium / Q000235:genetics; D008297:Male; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide / Q000235:genetics
chemical_list: C407643:IL1RAPL1 protein, human; D053577:Interleukin-1 Receptor Accessory Protein