RAD21
RAD21 cohesin complex component
Normal Function
Health Conditions Related to Genetic Changes
Cornelia de Lange syndrome
Variants (also called mutations) in the RAD21 gene have been identified in people with Cornelia de Lange syndrome, a developmental disorder that affects many parts of the body. Variants in this gene appear to be an uncommon cause of this condition.
Some cases of Cornelia de Lange syndrome have resulted from a deletion that removes a segment of DNA on chromosome 8 including the RAD21 gene. In these cases, the entire gene is missing from one copy of the chromosome in each cell, so cells produce a reduced amount of RAD21 protein. In other cases, the condition is caused by variants within the RAD21 gene that impair or eliminate the function of the RAD21 protein. A defective or missing RAD21 protein likely alters the activity of the cohesin complex, impairing its ability to regulate genes that are critical for normal development. Although researchers do not fully understand how these changes cause Cornelia de Lange syndrome, they suspect that altered gene regulation probably underlies many of the developmental problems characteristic of the condition.
Studies suggest that variants in the RAD21 gene cause a form of Cornelia de Lange syndrome with relatively mild features. Compared to variants in the NIPBL gene, which are the most common known cause of the disorder, RAD21 gene variants cause less significant delays in development and growth and are less likely to cause major birth defects.
More About This Health ConditionRelated Conditions
Cornelia de Lange syndromeTrichorhinophalangeal syndrome type II
Health Conditions Related to Genetic Changes
Variants (also called mutations) in the RAD21 gene have been identified in people with Cornelia de Lange syndrome, a developmental disorder that affects many parts of the body. Variants in this gene appear to be an uncommon cause of this condition.
Some cases of Cornelia de Lange syndrome have resulted from a deletion that removes a segment of DNA on chromosome 8 including the RAD21 gene. In these cases, the entire gene is missing from one copy of the chromosome in each cell, so cells produce a reduced amount of RAD21 protein. In other cases, the condition is caused by variants within the RAD21 gene that impair or eliminate the function of the RAD21 protein. A defective or missing RAD21 protein likely alters the activity of the cohesin complex, impairing its ability to regulate genes that are critical for normal development. Although researchers do not fully understand how these changes cause Cornelia de Lange syndrome, they suspect that altered gene regulation probably underlies many of the developmental problems characteristic of the condition.
Studies suggest that variants in the RAD21 gene cause a form of Cornelia de Lange syndrome with relatively mild features. Compared to variants in the NIPBL gene, which are the most common known cause of the disorder, RAD21 gene variants cause less significant delays in development and growth and are less likely to cause major birth defects.
The RAD21 gene is located in a region of chromosome 8 that is deleted in people with trichorhinophalangeal syndrome type II (TRPS II). TRPS II is a condition that causes bone and joint malformations; distinctive facial features; intellectual disability; and abnormalities of the skin, hair, teeth, sweat glands, and nails. As a result of this deletion, affected individuals are missing one copy of the RAD21 gene in each cell, so cells produce a reduced amount of RAD21 protein. A shortage of RAD21 protein may contribute to intellectual disability, but the mechanism is unclear. The deletion of other genes near the RAD21 gene likely contributes to the additional features of this condition.