Duplications of SLC1A3: Associated with ADHD and autism

Eur J Med Genet. 2016 Aug;59(8):373-6. doi: 10.1016/j.ejmg.2016.06.003. Epub 2016 Jun 11.

Abstract

We report four patients with a similar gain in 5p13.2 encompassing a single gene: SLC1A3. Behavioural problems resembling ADHD and/or autism-like features are observed which is in line with the glial glutamate transporter role of SLC1A3. We consider an association between SLC1A3 and the behavioural problems which can also be considered a contributing factor to behavioural problems in larger duplications overlapping the 5p13 microduplication syndrome region.

Keywords: ADHD; Autism; Duplication 5p13.2; SLC1A3.

Publication types

  • Case Reports

MeSH terms

  • Attention Deficit Disorder with Hyperactivity / diagnosis*
  • Attention Deficit Disorder with Hyperactivity / genetics*
  • Autistic Disorder / genetics*
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 5
  • Excitatory Amino Acid Transporter 1 / genetics*
  • Female
  • Gene Duplication*
  • Genetic Association Studies
  • Genome-Wide Association Study
  • Humans
  • Infant
  • Male
  • Oligonucleotide Array Sequence Analysis
  • Pedigree
  • Phenotype

Substances

  • Excitatory Amino Acid Transporter 1
  • SLC1A3 protein, human