title: Outfoxed by RBFOX1-a caution about ascertainment bias.
abstract: We report on two patients with intragenic deletions of RBFOX1 and one patient with an intragenic duplication of RBFOX1. These patients, by report, all had autism spectrum disorder and/or developmental delay and had strong family histories of these conditions. We initially hypothesized that RBFOX1 was another susceptibility locus for autism spectrum disorder or developmental delay. However, epidemiological evidence examining large numbers of individuals did not support this hypothesis and the data presented here suggests that RBFOX1 intragenic copy number variants are not pathogenic. This contradicts previous reports that examined smaller numbers of patients and controls. © 2014 Wiley Periodicals, Inc.
authors.affiliation: Hunter Genetics, Newcastle, New South Wales, Australia; The University of Newcastle, School of Medicine and Public Health, Newcastle, New South Wales, Australia.
authors.forename: Benjamin
authors.initials: B
authors.lastname: Kamien
authors.forename: Anath C
authors.initials: AC
authors.lastname: Lionel
authors.forename: Nicole
authors.initials: N
authors.lastname: Bain
authors.forename: Stephen W
authors.initials: SW
authors.lastname: Scherer
authors.forename: Matthew
authors.initials: M
authors.lastname: Hunter
mesh_terms: D002648:Child; D002659:Child Development Disorders, Pervasive / Q000235:genetics*; D002675:Child, Preschool; D056915:DNA Copy Number Variations / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D020440:Gene Duplication; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D000072260:RNA Splicing Factors; D016601:RNA-Binding Proteins / Q000235:genetics*
chemical_list: C455479:RBFOX1 protein, human; D000072260:RNA Splicing Factors; D016601:RNA-Binding Proteins
keywords: A2BP1; DNA copy number variation; FOX1; RBFOX1; ascertainment bias; autism spectrum disorder; genetic susceptibility