Study of RPL10 Gene in Autism Spectrum Disorders
Author Information
Author(s): Gong Xiaohong, Delorme Richard, Fauchereau Fabien, Durand Christelle M, Chaste Pauline, Betancur Catalina, Goubran-Botros Hany, Nygren Gudrun, Anckarsäter Henrik, Rastam Maria, Gillberg I Carina, Kopp Svenny, Mouren-Simeoni Marie-Christine, Gillberg Christopher, Leboyer Marion, Bourgeron Thomas
Primary Institution: Human Genetics and Cognitive Functions, CNRS URA 2182, Institut Pasteur, Paris, France
Hypothesis
Is the RPL10 gene associated with autism spectrum disorders?
Conclusion
The study found no significant evidence that RPL10 affects susceptibility to autism spectrum disorders.
Supporting Evidence
- No non-synonymous mutations were detected in the cohort.
- RPL10 transcript levels were similar between male and female controls.
- No significant difference in RPL10 expression was found between ASD patients and controls.
Takeaway
The researchers looked at a gene called RPL10 to see if it causes autism, but they didn't find any evidence that it does.
Methodology
The study sequenced RPL10 exons and quantified mRNA levels in individuals with ASD and controls using quantitative PCR.
Limitations
The sample size was smaller than previous studies, and the mutation screening was limited to exons, potentially missing regulatory variants.
Participant Demographics
The cohort included 101 males and 40 females, primarily of European descent.
Digital Object Identifier (DOI)
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