Coffin-Siris syndrome 5

Coffin-Siris syndrome 5 is a condition that affects multiple body systems and is specifically caused by mutations in the SMARCE1 gene. This syndrome is categorized as an autosomal dominant disorder and is typically identified in early childhood when developmental differences become apparent. While exact prevalence data is not available, the condition is recognized as part of the broader spectrum of Coffin-Siris syndromes. Affected individuals may present with a range of clinical features, including neurological manifestations such as seizures.

Individuals with Coffin-Siris syndrome 5 can exhibit a variety of features related to neurodevelopment. Seizures have been reported in approximately 5 to 29% of cases, reflecting the involvement of the central nervous system. In addition, many affected children may experience developmental challenges that impact cognitive and neurological functioning. Not all individuals experience all features, and severity varies considerably.

Coffin-Siris syndrome 5 is caused by mutations in the SMARCE1 gene. The SMARCE1 protein plays an important role in chromatin remodeling, which is essential for regulating gene expression during development. This condition is inherited in an autosomal dominant manner, meaning that a single altered copy of the gene can lead to the condition. It is also recognized that even within the same family the severity and specific symptoms can vary, underscoring the concepts of incomplete penetrance and variable expressivity.

Currently, management of Coffin-Siris syndrome 5 focuses on supportive care and symptom management since no specific foundational or targeted therapies have been approved. Treatment is tailored to the individual and typically involves a multidisciplinary team that may include developmental specialists, neurologists, and therapists to address developmental challenges and seizure management. Patients and families are encouraged to discuss care options with their healthcare team and to consider genetic counseling to better understand the implications for family planning.

Outcomes for individuals with Coffin-Siris syndrome 5 vary considerably depending on symptom severity, age of diagnosis, and access to appropriate multidisciplinary care. With current standards of care, many individuals experience stabilization of symptoms and can maintain a good quality of life, though some may require ongoing supportive interventions. Severity and symptoms vary widely between individuals, and outcomes described in medical literature continue to evolve as standards of care improve. Families are encouraged to connect with genetic counselors and specialists for personalized guidance and ongoing management.