CHD7

CHD7 is a gene that encodes the CHD7 protein in humans. This protein is a member of the CHD family of proteins, which play a crucial role in chromatin remodeling and are important for the regulation of gene expression. The CHD7 gene is located on chromosome 8q12.1 and consists of 38 exons. Mutations in the CHD7 gene are primarily associated with CHARGE syndrome, a rare genetic disorder characterized by a complex array of congenital anomalies.

Function

The CHD7 protein is involved in the ATP-dependent remodeling of chromatin, which is essential for the access of transcription factors to DNA and, consequently, for the proper expression of genes. It is particularly important during development, playing a critical role in the formation of multiple organ systems, including the heart, ears, and eyes, as well as in the development of the nervous system.

Clinical Significance

Mutations in the CHD7 gene are the major cause of CHARGE syndrome. This syndrome is characterized by a specific and recognizable pattern of birth defects that include coloboma of the eye, heart defects, atresia of the choanae, growth retardation, genital abnormalities, and ear abnormalities, including deafness. The severity and combination of symptoms can vary significantly among affected individuals. Diagnosis of CHARGE syndrome is primarily clinical, but genetic testing can confirm a mutation in the CHD7 gene.

In addition to CHARGE syndrome, mutations in the CHD7 gene have been linked to other developmental disorders and anomalies, although these associations are less well-defined. Research is ongoing to fully understand the spectrum of conditions associated with CHD7 mutations.

Genetic Testing

Genetic testing for mutations in the CHD7 gene can be performed to confirm a diagnosis of CHARGE syndrome in individuals presenting with the characteristic features of the disorder. Prenatal testing and preimplantation genetic diagnosis (PGD) may be available for families with a known CHD7 mutation.

Research Directions

Research on CHD7 continues to explore its broader role in chromatin remodeling and gene expression, as well as its involvement in diseases beyond CHARGE syndrome. Understanding the mechanisms by which CHD7 mutations lead to the diverse manifestations of CHARGE syndrome may provide insights into the development of targeted therapies or interventions.