Coffin-Siris Syndrome (CSS) is a rare genetic disorder that affects multiple organs and systems of the body. It is characterized by developmental delays, intellectual disability, distinctive facial features, and abnormalities of the fifth digits. The syndrome can be caused by mutations in several genes, one of which is the SMARCE1 gene. Understanding the symptoms associated with SMARCE1-related CSS and the importance of genetic testing can provide crucial insights for affected individuals and their families. DNA Labs UAE offers a comprehensive genetic test for those affected by or at risk of SMARCE1-related Coffin-Siris Syndrome.
Understanding SMARCE1-Related Coffin-Siris Syndrome
SMARCE1-related Coffin-Siris Syndrome is a condition that falls under a group of disorders known as BAFopathies, which are caused by mutations in genes encoding components of the BAF (BRG1/BRM-associated factor) complex. This complex plays a critical role in chromatin remodeling, which is essential for the regulation of gene expression during development. Mutations in the SMARCE1 gene can disrupt this process, leading to the various clinical manifestations of CSS.
Symptoms of SMARCE1-Related Coffin-Siris Syndrome
The symptoms of SMARCE1-related Coffin-Siris Syndrome can vary widely among affected individuals but generally include:
- Developmental delay and intellectual disability of varying degrees.
- Distinctive facial features such as a wide mouth, thick eyebrows, long eyelashes, and a broad nasal tip.
- Abnormalities of the fifth digits, including hypoplasia (underdevelopment) or aplasia (absence) of the fifth fingernails or toenails.
- Growth delays, including short stature.
- Feeding difficulties in infancy.
- Hirsutism (excessive body hair).
- Low muscle tone (hypotonia).
It is important to note that the presence and severity of these symptoms can vary, and not all individuals with SMARCE1-related CSS will have all these features.
The Importance of Genetic Testing for SMARCE1-Related Coffin-Siris Syndrome
Genetic testing plays a crucial role in the diagnosis and management of SMARCE1-related Coffin-Siris Syndrome. It can confirm a diagnosis, inform treatment and management decisions, and provide important information for family planning. The test offered by DNA Labs UAE is designed to detect mutations in the SMARCE1 gene that are associated with the syndrome.
SMARCE1 Gene Coffin-Siris Syndrome SMARCE1-Related Genetic Test at DNA Labs UAE
DNA Labs UAE offers a comprehensive genetic test for SMARCE1-related Coffin-Siris Syndrome. The test is designed to identify mutations in the SMARCE1 gene that are responsible for the condition. It is a valuable tool for confirming a diagnosis and can also be used for carrier testing in family members.
The cost of the SMARCE1-related genetic test at DNA Labs UAE is 4400 AED. For more information about the test and to schedule an appointment, please visit DNA Labs UAE.
Conclusion
SMARCE1-related Coffin-Siris Syndrome is a complex condition that requires a comprehensive approach to diagnosis and management. Genetic testing for mutations in the SMARCE1 gene is an essential tool for affected individuals and their families. It provides not only confirmation of the diagnosis but also valuable information for managing the condition and making informed decisions about family planning. DNA Labs UAE is committed to offering accurate and reliable genetic testing services, including the SMARCE1-related genetic test, to help improve the lives of those affected by this rare syndrome.
