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No evidence for IL1RAPL1 involvement in selected high‐risk autism pedigrees from the AGRE data set
Author(s) -
AllenBrady Kristina,
Cai Guiqing,
Can Dale,
Robison Reid,
McMahon William M.,
Coon Hilary,
Buxbaum Joseph D.
Publication year - 2011
Publication title -
autism research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.656
H-Index - 66
eISSN - 1939-3806
pISSN - 1939-3792
DOI - 10.1002/aur.195
Subject(s) - autism , genetics , genetic linkage , gene , pedigree chart , linkage (software) , biology , autism spectrum disorder , genome scan , chromosome , genome , allele , psychology , microsatellite , developmental psychology
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. Autism Res 2011,4:293–296 . © 2011 International Society for Autism Research, Wiley Periodicals, Inc.