Duplications of SLC1A3: Associated with ADHD and autism.
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.
Department of Human Genetics, Donders Centre for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
Claudia J M
CJ
van Amen-Hellebrekers
Department of Human Genetics, Donders Centre for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
Sandra
S
Jansen
Department of Human Genetics, Donders Centre for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
Rolph
R
Pfundt
Department of Human Genetics, Donders Centre for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
Janneke H
JH
Schuurs-Hoeijmakers
Department of Human Genetics, Donders Centre for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
David A
DA
Koolen
Department of Human Genetics, Donders Centre for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
Carlo L
CL
Marcelis
Department of Human Genetics, Donders Centre for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
Nicole
N
de Leeuw
Department of Human Genetics, Donders Centre for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands. Electronic address: bert.devries@radboudumc.nl.
Bert B A
BB
de Vries
D001289:Attention Deficit Disorder with Hyperactivity / Q000175:diagnosis* / Q000235:genetics*; D001321:Autistic Disorder / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002895:Chromosomes, Human, Pair 5; D027341:Excitatory Amino Acid Transporter 1 / Q000235:genetics*; D005260:Female; D020440:Gene Duplication; D056726:Genetic Association Studies; D055106:Genome-Wide Association Study; D006801:Humans; D007223:Infant; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D010375:Pedigree; D010641:Phenotype
D027341:Excitatory Amino Acid Transporter 1; C493394:SLC1A3 protein, human
ADHD; Autism; Duplication 5p13.2; SLC1A3