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Outfoxed by RBFOX1-a caution about ascertainment bias
Benjamin Kamien1, Anath C Lionel, Nicole Bain
1Hunter Genetics, Newcastle, New South Wales, Australia; The University of Newcastle, School of Medicine and Public Health, Newcastle, New South Wales, Australia.
American Journal of Medical Genetics. Part A
|March 26, 2014
Summary
Intragenic copy number variants in RBFOX1 are unlikely to cause autism spectrum disorder or developmental delay, despite previous suggestions. Larger studies indicate these genetic changes are not pathogenic.
Area of Science:
- Genetics
- Neurodevelopmental Disorders
- Molecular Biology
Background:
- RBFOX1 gene variants have been previously implicated as potential risk factors for autism spectrum disorder (ASD) and developmental delay (DD).
- Previous studies examining smaller cohorts suggested a link between RBFOX1 intragenic copy number variants (CNVs) and neurodevelopmental conditions.
- Strong family histories of ASD and/or DD were noted in the initially identified patients with RBFOX1 intragenic deletions or duplications.
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