دورية أكاديمية
أعرض في EDS

Duplications of SLC1A3: Associated with ADHD and autism.

التفاصيل البيبلوغرافية
العنوان: Duplications of SLC1A3: Associated with ADHD and autism.
المؤلفون: van Amen-Hellebrekers CJ; Department of Human Genetics, Donders Centre for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Jansen S; Department of Human Genetics, Donders Centre for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Pfundt R; Department of Human Genetics, Donders Centre for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Schuurs-Hoeijmakers JH; Department of Human Genetics, Donders Centre for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Koolen DA; Department of Human Genetics, Donders Centre for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Marcelis CL; Department of Human Genetics, Donders Centre for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., de Leeuw N; Department of Human Genetics, Donders Centre for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., de Vries BB; 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.
المصدر: European journal of medical genetics [Eur J Med Genet] 2016 Aug; Vol. 59 (8), pp. 373-6. Date of Electronic Publication: 2016 Jun 11.
نوع المنشور: Case Reports; Journal Article
اللغة: English
بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Amsterdam : Elsevier, c2005-
مواضيع طبية MeSH: Gene Duplication*, Attention Deficit Disorder with Hyperactivity/*diagnosis , Attention Deficit Disorder with Hyperactivity/*genetics , Autistic Disorder/*genetics , Excitatory Amino Acid Transporter 1/*genetics, Child ; Child, Preschool ; Chromosomes, Human, Pair 5 ; Female ; Genetic Association Studies ; Genome-Wide Association Study ; Humans ; Infant ; Male ; Oligonucleotide Array Sequence Analysis ; Pedigree ; Phenotype
مستخلص: 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.
(Copyright © 2016 Elsevier Masson SAS. All rights reserved.)
فهرسة مساهمة: Keywords: ADHD; Autism; Duplication 5p13.2; SLC1A3
المشرفين على المادة: 0 (Excitatory Amino Acid Transporter 1)
0 (SLC1A3 protein, human)
تواريخ الأحداث: Date Created: 20160615 Date Completed: 20170206 Latest Revision: 20170206
رمز التحديث: 20240628
DOI: 10.1016/j.ejmg.2016.06.003
PMID: 27296938
قاعدة البيانات: MEDLINE
الوصف
تدمد:1878-0849
DOI:10.1016/j.ejmg.2016.06.003