2006年10月2日 · CHD7 encodes a chromodomain protein that is involved in the ATP-dependent remodeling of chromatin. CHD7 binds to more than 10,000 sites in the mammalian genome and interacts with dozens of other genes. Features of CHD7-related disorders may be due to loss of ribosomal biogenesis or other mechanisms.

2024年12月24日 · CHD7 (Chromodomain Helicase DNA Binding Protein 7) is a Protein Coding gene. Diseases associated with CHD7 include Charge Syndrome and Hypogonadotropic Hypogonadism 5 With Or Without Anosmia. Among its related pathways are Chromatin Regulation / Acetylation and Kallmann syndrome.

The CHD7 gene provides instructions for making a protein called chromodomain helicase DNA binding protein 7. This protein is found in many parts of the body before birth, including the eye, the inner ear, and the brain.

De novo mutations in the gene encoding chromodomain helicase DNA binding protein 7 (CHD7) are the major cause of CHARGE syndrome. Here, we review the clinical features of 379 CHARGE patients who tested positive or negative for mutations in CHD7.

2021年9月29日 · Haploinsufficiency of the chromatin remodeling enzyme CHD7 causes CHARGE syndrome, a genetic disorder that affects the development of the cerebellum. However, how CHD7 controls chromatin states...

Recently, mutations of the chromodomain helicase DNA-binding protein gene CHD7 were reported to be a major cause of CHARGE syndrome. We sequenced the CHD7 gene in 110 individuals who had received the clinical diagnosis of CHARGE syndrome, and we detected mutations in 64 (58%).

2023年3月6日 · CHARGE syndrome is an inherited disorder caused by a mutation in the DNA-binding protein-7 CHD7 gene. CHARGE syndrome is an acronym for coloboma, heart disease, atresia of the choanae, retarded growth and mental development, genital anomalies, and ear malformations and hearing loss.

Finally, we give updated recommendations for clinical surveillance of patients with a CHD7 mutation, based on our exploration of the phenotypic spectrum and on our experience in a multidisciplinary outpatient clinic for CHARGE syndrome.

2022年9月29日 · CHD7 disorder is an autosomal dominant disorder typically caused by a de novo pathogenic variant. In rare instances, an individual with <i>CHD7</i> disorder inherits a pathogenic variant from a heterozygous parent.

CHD7 is a transcriptional regulator that binds to enhancer elements in the nucleoplasm. CHD7 also functions as a positive regulator of ribosomal RNA (rRNA) biogenesis in the nucleolus (summary by Zentner et al., 2010).