Which are the causes of WAGR Syndrome - 11p Deletion Syndrome?

WAGR Syndrome - 11p Deletion Syndrome: Causes

WAGR Syndrome, also known as 11p Deletion Syndrome, is a rare genetic disorder that is caused by the deletion of a small piece of genetic material on the short arm of chromosome 11. This deletion typically occurs randomly during the formation of reproductive cells or early in fetal development.

Genetic Mutation:

The primary cause of WAGR Syndrome is a genetic mutation that leads to the deletion of a specific region on chromosome 11. This mutation can occur spontaneously, without any known family history of the syndrome. In some cases, the mutation may be inherited from a parent who carries the altered gene.

Wilms Tumor Gene:

One of the key genes affected by the deletion in WAGR Syndrome is the Wilms tumor gene (WT1). This gene normally plays a crucial role in the development of the kidneys and urinary system. The loss of one copy of the WT1 gene due to the deletion increases the risk of developing Wilms tumor, a type of kidney cancer that primarily affects children.

Aniridia Gene:

Another gene affected by the deletion is the PAX6 gene, which is responsible for the development of the eyes. The loss of one copy of the PAX6 gene leads to a condition called aniridia, characterized by the absence or partial absence of the iris, the colored part of the eye. Aniridia can cause various vision problems and may lead to other eye abnormalities.

Other Genetic Factors:

In addition to the deletion of specific genes, other genetic factors may contribute to the development of WAGR Syndrome. For example, variations in the remaining copy of the WT1 gene or other nearby genes on chromosome 11 may influence the severity and specific features of the syndrome.

Environmental Factors:

While the primary cause of WAGR Syndrome is genetic, environmental factors are not believed to play a significant role in its development. The syndrome is typically not influenced by factors such as maternal age, exposure to toxins, or lifestyle choices.

Conclusion:

WAGR Syndrome, or 11p Deletion Syndrome, is primarily caused by a genetic mutation resulting in the deletion of a specific region on chromosome 11. This deletion affects genes such as WT1 and PAX6, leading to an increased risk of Wilms tumor and the development of aniridia. While other genetic factors may contribute to the syndrome, environmental factors are not considered significant in its development.