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

Behavioral and Brain Functions

Inga Freunscht⁹  Bernt Popp⁸  Rainer Blank⁴  Sabine Endele⁸  Ute Moog²  Holger Petri³  Eva-Christina Prott⁵  Andre Reis⁸  Jochen Rübo¹  Bernhard Zabel⁷  Martin Zenker⁶  Johannes Hebebrand⁹  Dagmar Wieczorek⁵ 

[1] Klinik für Kinder- und Jugendmedizin, St. Antonius-Hospital Kleve, Kleve, Germany

[2] Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany

[3] DRK-Kinderklinik, Siegen, Germany

[4] Klinik für Kinderneurologie und Sozialpädiatrie, Kinderzentrum Maulbronn gGmbH, Maulbronn, Germany

[5] Institut für Humangenetik, University of Duisburg-Essen, University Hospital Essen, Essen, Germany

[6] Institut für Humangenetik, Otto-von-Guericke University Magdeburg, Magdeburg, Germany

[7] Centre for Pediatric and Adolescent Medicine, University Hospital Freiburg, Freiburg, Germany

[8] Institute of Human Genetics, University of Erlangen-Nuremberg, Erlangen, Germany

[9] Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University of Duisburg-Essen, Essen 45147, Germany

关键词: Intellectual disability;    Stereotypies;    Hyperactivity;    Behavior problems;    GRIN2B mutations;   

Others  :  793472
DOI  :  10.1186/1744-9081-9-20

 received in 2012-07-20, accepted in 2013-05-10,  发布年份 2013

【 摘 要 】

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.

【 授权许可】

   
2013 Freunscht et al.; licensee BioMed Central Ltd.

【 图 表 】

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