Group C Cockayne Syndrome is a rare genetic disorder characterized by various developmental and progressive abnormalities, primarily affecting the growth and development of an individual. It belongs to a broader spectrum of disorders known as Cockayne Syndrome (CS) that encompasses three distinct subtypes (A, B, and C). Group C Cockayne Syndrome is the least severe form among these subtypes.
Individuals with Group C Cockayne Syndrome typically exhibit several clinical features, including severe short stature, intellectual disability, sun-sensitive skin, hearing loss, visual impairment, and a progressive neurodegenerative decline. Unlike other subtypes, individuals with Group C Cockayne Syndrome often have a milder postnatal growth abnormality and may have a normal head circumference.
The condition is caused by mutations in the ERCC6 gene, which provides instructions for producing a protein involved in DNA repair and transcription. This protein plays a critical role in maintaining the integrity and stability of DNA, ensuring accurate replication and transcription processes. With defective ERCC6 genes, DNA repair mechanisms are impaired, resulting in progressive damage accumulation and disruption of cellular functions.
Group C Cockayne Syndrome is typically inherited in an autosomal recessive pattern, requiring two copies of the mutated gene for an individual to be affected. Due to its rarity and complexity, there is no specific cure or definitive treatment for this syndrome. Management focuses on addressing individual symptoms, improving quality of life, and providing supportive care.
Further research into understanding the underlying molecular mechanisms and developing potential therapeutic interventions is critical to improve the prognosis and quality of life for individuals with Group C Cockayne Syndrome.
