Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2013 May 29:9:20.
doi: 10.1186/1744-9081-9-20.

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

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

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

Inga Freunscht et al. Behav Brain Funct. .

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.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Unremarkable facial phenotypes in individuals with GRIN2B mutations. A. Individual 1 at the age of 5 years. B. Individual 3 at the age of 8 years. C. Individual 5 at the age of 2 years.
Figure 2
Figure 2
Parents’ ratings - Developmental Behavior Checklist (DBC). Above-average scores >84.
Figure 3
Figure 3
Teachers’ ratings - Developmental Behavior Checklist (DBC). Above-average scores >84.
Figure 4
Figure 4
Parents’ ratings - Conners’ Rating Scales-Revised (CPRS-R:L). Above-average scores >60.
Figure 5
Figure 5
Teachers’ ratings - Conners’ Rating Scales-Revised (CTRS-R:L). Above-average scores >60.
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Ropers HH. Genetics of early onset cognitive impairment. Annu Rev Genomics Hum Genet. 2010;11:161–187. doi: 10.1146/annurev-genom-082509-141640. - DOI - PubMed
    1. Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, Albrecht B, Bartholdi D, Beygo J, Di Donato N, Dufke A, Cremer K, Hempel M, Horn D, Hoyer J, Joset P, Röpke A, Moog U, Riess A, Thiel CT, Tzschach A, Wiesener A, Wohlleber E, Zweier C, Ekici AB, Zink AM, Rump A, Meisinger C, Grallert H, Sticht H, Schenck A, Engels H, Rappold G, Schröck E, Wieacker P, Riess O, Meitinger T, Reis A, Strom TM. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet. 2012;380:1674–82. doi: 10.1016/S0140-6736(12)61480-9. - DOI - PubMed
    1. De Ligt J, Willemsen MH, van Bon BWM, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, Del Rosario M, Hoischen A, Scheffer H, De Vries BBA, Brunner HG, Veltman JA, Vissers LELM, De Ligt J, Willemsen MH, van Bon BWM, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, Del Rosario M, Hoischen A, Scheffer H, De Vries BBA, Brunner HG, Veltman JA, Vissers LELM. Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability. N Engl J Med. 2012;367:1921–1929. doi: 10.1056/NEJMoa1206524. - DOI - PubMed
    1. Whitaker S, Read S. The prevalence of psychiatric disorders among people with intellectual disabilities: an analysis of the literature. J Appl Res Intellect Disabil. 2006;19:330–345. doi: 10.1111/j.1468-3148.2006.00293.x. - DOI
    1. Dekker MC, Koot HM, van der Ende J, Verhulst FC. Emotional and behavioral problems in children and adolescents with and without intellectual disability. J Child Psychol Psychiatry. 2002;43:1087–98. doi: 10.1111/1469-7610.00235. - DOI - PubMed

Publication types

Substances