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Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene

Freunscht, Inga ; Popp, Bernt ; Blank, Rainer ; Endele, Sabine ; Moog, Ute ; Petri, Holger ; Prott, Eva-Christina ; Reis, Andre ; Rübo, Jochen ; Zabel, Bernhard ; Zenker, Martin ; Hebebrand, Johannes ; Wieczorek, Dagmar

In: Behavioral and Brain Functions, 9 (2013), Nr. 20. pp. 1-11. ISSN 1744-9081

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Download (1MB) | Lizenz: Creative Commons LizenzvertragBehavioral phenotype in five individuals with de novo mutations within the GRIN2B gene by Freunscht, Inga ; Popp, Bernt ; Blank, Rainer ; Endele, Sabine ; Moog, Ute ; Petri, Holger ; Prott, Eva-Christina ; Reis, Andre ; Rübo, Jochen ; Zabel, Bernhard ; Zenker, Martin ; Hebebrand, Johannes ; Wieczorek, Dagmar underlies the terms of Creative Commons Attribution 3.0 Germany

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Abstract

Background: Intellectual disability (ID) is often associated with behavioral problems or disorders. Mutations in the GRIN2B gene (MRD6, MIM613970) have been identified as a common cause of ID (prevalence of 0.5 – 1% in individuals with ID) associated with EEG and behavioral problems. Methods: We assessed five GRIN2B mutation carriers aged between 3 and 14 years clinically and via standardized questionnaires to delineate a detailed behavioral phenotype. Parents and teachers rated problem behavior of their affected children by completing the Developmental Behavior Checklist (DBC) and the Conners’ Rating Scales Revised (CRS-R:L). Results: All individuals had mild to severe ID and needed guidance in daily routine. They showed characteristic behavior problems with prominent hyperactivity, impulsivity, distractibility and a short attention span. Stereotypies, sleeping problems and a friendly but boundless social behavior were commonly reported. Conclusion: Our observations provide an initial delineation of the behavioral phenotype of GRIN2B mutation carriers.

Item Type: Article
Journal or Publication Title: Behavioral and Brain Functions
Volume: 9
Number: 20
Publisher: BioMed Central
Place of Publication: London
Date Deposited: 25 Jan 2016 11:47
Date: 2013
ISSN: 1744-9081
Page Range: pp. 1-11
Faculties / Institutes: Medizinische Fakultät Heidelberg > Institut für Humangenetik
Subjects: 570 Life sciences
610 Medical sciences Medicine
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