Outfoxed by RBFOX1-A caution about ascertainment bias

Benjamin Kamien, Anath C. Lionel, Nicole Bain, Stephen W. Scherer, Matthew Hunter

Research output: Contribution to journalArticleResearchpeer-review

8 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)1411-1418
Number of pages8
JournalAmerican Journal of Medical Genetics Part A
Issue number6
Publication statusPublished - Jun 2014
Externally publishedYes


  • A2BP1
  • Ascertainment bias
  • Autism spectrum disorder
  • DNA copy number variation
  • FOX1
  • Genetic susceptibility
  • RBFOX1

Cite this