Floating-Harbor syndrome is a rare genetic disorder that affects various parts of the body. It was first described in 1973 by Dr. Richard Floating and Dr. William Harbor, hence the name. This syndrome is characterized by a distinct set of physical features, developmental delays, and intellectual disabilities. The exact cause of Floating-Harbor syndrome is still not fully understood, but researchers have made significant progress in identifying potential factors that contribute to its development.
Genetic Mutations: The primary cause of Floating-Harbor syndrome is a mutation in a gene called SRCAP (SNF2-related CREBBP activator protein). This gene provides instructions for producing a protein that plays a crucial role in the development and function of various tissues and organs. Mutations in the SRCAP gene disrupt the normal functioning of this protein, leading to the characteristic features and symptoms of Floating-Harbor syndrome. These mutations can occur spontaneously or be inherited from an affected parent.
Spontaneous Mutations: In many cases, the mutations responsible for Floating-Harbor syndrome occur randomly during the formation of reproductive cells (eggs or sperm) or early in embryonic development. These spontaneous mutations are not inherited from the parents and typically occur in individuals with no family history of the syndrome. The exact reasons behind these spontaneous mutations are still unknown, but they are believed to be influenced by various environmental and genetic factors.
Inherited Mutations: In some instances, Floating-Harbor syndrome can be inherited from an affected parent. The condition follows an autosomal dominant pattern of inheritance, which means that an individual with an SRCAP gene mutation has a 50% chance of passing the mutation on to each of their children. However, it is important to note that not all individuals with Floating-Harbor syndrome have an affected parent, as spontaneous mutations are also common.
Genetic Testing: The diagnosis of Floating-Harbor syndrome is typically confirmed through genetic testing. This involves analyzing a person's DNA to identify mutations in the SRCAP gene. Genetic testing can help determine the underlying cause of the syndrome and provide valuable information for medical management and genetic counseling.
Other Factors: While the SRCAP gene mutation is the primary cause of Floating-Harbor syndrome, there may be other contributing factors that influence the severity and specific features of the syndrome. Researchers are actively investigating these additional factors, including potential genetic modifiers and environmental influences, to gain a better understanding of the syndrome's variability.
Conclusion: In summary, Floating-Harbor syndrome is primarily caused by mutations in the SRCAP gene. These mutations can occur spontaneously or be inherited from an affected parent. While the exact reasons behind the development of these mutations are still unclear, ongoing research aims to uncover additional factors that contribute to the syndrome. Genetic testing plays a crucial role in diagnosing Floating-Harbor syndrome and providing individuals and families with the necessary information and support for managing the condition.