Autism spectrum disorder associated with low serotonin in CSF and mutations in the SLC29A4 plasma membrane monoamine transporter (PMAT) gene

@inproceedings{Adamsen2014AutismSD,
  title={Autism spectrum disorder associated with low serotonin in CSF and mutations in the SLC29A4 plasma membrane monoamine transporter (PMAT) gene},
  author={Dea Adamsen and Vincent Th Ramaekers and Horace T. B. Ho and Corinne Britschgi and V{\'e}ronique R{\"u}fenacht and David Meili and Elise Bobrowski and Paule Philippe and Caroline Nava and Lionel Van Maldergem and R{\'e}my Bruggmann and Susanne Walitza and Joanne H. Wang and Edna Gr{\"u}nblatt and Beat Th{\"o}ny},
  booktitle={Molecular autism},
  year={2014}
}
BACKGROUND Patients with autism spectrum disorder (ASD) may have low brain serotonin concentrations as reflected by the serotonin end-metabolite 5-hydroxyindolacetic acid (5HIAA) in cerebrospinal fluid (CSF). METHODS We sequenced the candidate genes SLC6A4 (SERT), SLC29A4 (PMAT), and GCHFR (GFRP), followed by whole exome analysis. RESULTS The known heterozygous p.Gly56Ala mutation in the SLC6A4 gene was equally found in the ASD and control populations. Using a genetic candidate gene… CONTINUE READING
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The disruption of Celf6, a gene identified by translational profiling of serotonergic neurons, results in autism-related behaviors.

The Journal of neuroscience : the official journal of the Society for Neuroscience • 2013
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