2015年12月10日 · CHD2-related neurodevelopmental disorders are autosomal dominant disorders typically caused by a de novo pathogenic variant. If the CHD2 pathogenic variant identified in the proband is not identified in either parent, the risk to sibs is low but greater than that of the general population because of the possibility of parental germline mosaicism.

The CHD2 gene is located on chromosome 15 and provides instructions for making a protein called chromodomain-DNA-helicase-binding protein 2. This protein is found in cells throughout the body and regulates gene activity (expression) through a process known as chromatin remodeling.

2019年11月8日 · Chromodomain helicase DNA binding protein 2 (Chd2) is a chromatin remodeller implicated in neurological disease. Here we show that Chaserr, a highly conserved long noncoding RNA transcribed...

2018年12月5日 · Mutations in the chromodomain helicase DNA-binding 2 (CHD2) gene have been found in patients with a range of neurodevelopmental disorders. In this issue of Neuron, Kim et al. (2018) showed that Chd2 haploinsufficiency compromises cortical development, synaptic function, and memory in mice.

2024年12月24日 · CHD2 (Chromodomain Helicase DNA Binding Protein 2) is a Protein Coding gene. Diseases associated with CHD2 include Developmental And Epileptic Encephalopathy 94 and Lennox-Gastaut Syndrome. Among its related pathways are Chromatin Regulation / Acetylation and Dravet syndrome.

2018年12月5日 · Considerable evidence suggests loss-of-function mutations in the chromatin remodeler CHD2 contribute to a broad spectrum of human neurodevelopmental disorders. However, it is unknown how CHD2 mutations lead to impaired brain function. Here we report mice with heterozygous mutations in Chd2 exhibit d …

Evidence from animal models support a neurodevelopmental role for CHD2. Chd2 +/− mice demonstrate dysregulated cortical neural oscillations and synchrony as well as deficits in long‐term memory and interneuron density, with the latter two findings related to a deficit in hippocampal inhibitory interneuron number and/or function. 2

CHD2 encodes the chromodomain helicase DNA-binding protein 2, an ATP-dependent enzyme that acts as a chromatin remodeler. CHD2 pathogenic variants have been associated with various early onset phenotypes including developmental and epileptic encephalopathy, self-limiting or pharmacoresponsive epilep …

Chd2 is critical for cortical development. However, more studies are needed to fully understand its role during neuronal differentiation and how mutations lead to neurodevelop-mental disorders. To better understand the role of Chd2, Kim et al. generated a Chd2 haploinsuffi-cient mouse line (Kim et al., 2018), which mimicked Chd2 loss in only ...

2022年3月21日 · Mutations in the CHD2 gene are inherited in an autosomal-dominant manner and can lead to intellectual disability, epilepsy, and autism. We investigated the clinical characteristics of CHD2 -related conditions and their possible pathogenesis.