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Article

Autism associated with low 5-hydroxyindolacetic acid in CSF and the heterozygous SLC6A4 gene Gly56Ala plus 5-HTTLPR L/L promoter variants.

Molecular genetics and metabolism - 1 Mar 2011

Adamsen Dea, Meili David, Blau Nenad, Thöny Beat, Ramaekers Vincent

Abstract excerpt

The known Gly56Ala mutation in the serotonin transporter SERT (or 5-HTT), encoded by the SLC6A4 gene, causes increased serotonin reuptake and has been associated with autism and rigid-compulsive behavior. We report a patient with macrocephaly from birth, followed by hypotonia, developmental delay...

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Share to Amino Acid Substitution
Share to Antidepressive Agents, Second-Generation
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Promoter Regions, Genetic

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Share to Serotonin Plasma Membrane Transport Proteins

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Source

Identifiers

PMID: 21183371
DOI: 10.1016/j.ymgme.2010.11.162

Genes

HTT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21183371-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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