5名携带GRIN2B基因新生突变个体的行为表型
Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene.
作者信息
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
出版信息
Behav Brain Funct. 2013 May 29;9:20. doi: 10.1186/1744-9081-9-20.
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.
背景
智力残疾（ID）常与行为问题或障碍相关。GRIN2B基因（MRD6，MIM613970）突变已被确定为与脑电图和行为问题相关的ID的常见病因（在ID个体中的患病率为0.5 - 1%）。
方法
我们对5名年龄在3至14岁之间的GRIN2B突变携带者进行了临床评估，并通过标准化问卷来描绘详细的行为表型。父母和教师通过填写发育行为检查表（DBC）和修订版康纳斯评定量表（CRS - R:L）对其受影响孩子的问题行为进行评分。
结果
所有个体都有轻度至重度的ID，在日常生活中需要指导。他们表现出典型的行为问题，突出表现为多动、冲动、注意力分散和注意力持续时间短。常报告有刻板行为、睡眠问题以及友好但无边界的社交行为。
结论
我们的观察结果初步描绘了GRIN2B突变携带者的行为表型。
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