Marshall-Smith syndrome is caused by a genetic mutation in the NFIX gene.
The Role of the NFIX Gene
The NFIX gene provides instructions for making a protein that functions as a transcription factor. Transcription factors bind to specific regions of DNA and help control the activity of other genes. The NFIX protein is vital for regulating gene expression, particularly during embryonic development. It plays a critical role in the development of the brain and skeleton.
How the Mutation Leads to Marshall-Smith Syndrome
Mutations in the NFIX gene disrupt the normal function of the NFIX protein. This impaired function affects the regulation of other genes that are crucial for proper development. As a result, individuals with Marshall-Smith syndrome exhibit a variety of skeletal and developmental abnormalities.
In Summary
- Cause: Mutation in the NFIX gene
- Gene Function: The NFIX gene is vital for the production of a transcription factor important for brain and skeletal development.
- Effect of Mutation: Disruption of normal gene regulation during development, leading to the characteristics of Marshall-Smith syndrome.
