BCL11B Related Disorder : Clinical Phenotype, Neuropsychological Profile, Brain MRI Characteristics and Epigenetic Signatures.
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 10
- 试验地点
- 1
- 主要终点
- Neuropsychological phenotype
研究概览
简要总结
BCL11B related disorder, also known as Gabriele-de-Vries syndrome, is mainly characterised by developmental delay (DD) and intellectual disability (ID), ranging from mild to severe, and neuroimaging abnormalities.
The aims of this study are first to better delineate the clinical phenotype, as well as the neuropsychological profile, and the brain MRI characteristics; and, second, to study the epigenetic signatures in a cohort of individuals with BCL11B intragenic pathogenic variants. This work will conduct to a MD thesis of a clinical resident geneticist in France.
Physician that will participate will fill an Excel sheet regarding the clinical and neuropsychological assessment. The investigators will be also happy to have either CD-ROM or a link to have access to the brain MRI data as well as a DNA sample with a minimum 0.5ug of peripheral blood genomic DNA. The investigators will gather the DNA in Montpellier genetic lab (Dr Mouna BARAT) and send the batch to the Dr Sadikovic' lab.
Between 2019 and 2020, The investigators have already recruited data from individuals with BCL11B pathogenic variants from several European and American genetic centres.
详细描述
The investigators aim to better understand and delineate the genetic syndrome BCL11B (a.k.a. Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities syndrome or IDDSFTA).
This genetic disorder was described in June 2017 in the American Journal of Human Genetics (PMID 28575647).
Since this first publication of 23 individuals carrying the pathogenic mutation BCL11B, another individual has been reported in the literature (PMID 30549423).
In addition, the first paper focused on the clinical description as well as the effect of pathogenic BCL11B variations in chromatin regulation.
The investigators are seeking to better define the phenotype of individuals with pathogenic variants of BCL11B, to better understand intellectual functioning as well as the strengths and weaknesses of intellectual functioning by collecting standardized neuropsychological assessments already performed such as WPPSI/WISC and WAIS. For this purpose, The investigators will gather clinical and neuropsychological data already carried out in the context of care.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- 未提供
排除标准
- 未提供
结局指标
主要结局
Neuropsychological phenotype
时间窗: 1 day
BCL11B related clinical and neuropsychological phenotype. Neuropsychological phenotype will be assessed using Wechsler scales. The phenotype of individuals will be assessed using a questionnaire sent to their geneticist
Measurement and comparison of the methylation of the cpg sites
时间窗: 1 day
Epigenetic signature will be investigated by measurement and comparison of the methylation of the cpg sites
次要结局
未报告次要终点