Marshall syndrome is caused by mutations in the COL11A1 gene. This gene provides instructions for making a protein that is a part of type XI collagen, which is crucial for the development of cartilage and other connective tissues.
Understanding the Genetics
Here's a breakdown of the genetic cause:
- Gene: The COL11A1 gene.
- Location: This gene is located on chromosome 1, specifically at position 1p21.
- Inheritance: Marshall syndrome is inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is sufficient to cause the disorder.
- Mutations: The most common types of mutations are splice site mutations, usually involving insertions or deletions of base pairs within intron 50 of the COL11A1 gene.
How Mutations Lead to Marshall Syndrome
Mutations in the COL11A1 gene disrupt the normal production of type XI collagen. This disruption affects the development of various tissues, leading to the characteristic features of Marshall syndrome, such as:
- Distinctive facial features.
- Hearing loss.
- Eye problems.
Key Takeaways
- Marshall syndrome is a genetic disorder.
- It is caused by COL11A1 gene mutations.
- These mutations affect collagen production.
- It is autosomal dominant.
| Feature | Description |
|---|---|
| Cause | Mutation in the COL11A1 gene. |
| Gene Location | Chromosome 1 (1p21) |
| Inheritance Pattern | Autosomal dominant |
| Common Mutations | Splice site mutations, including base pair insertions or deletions, especially within intron 50 of the gene. |
| Collagen Effect | Disruption in the production of type XI collagen, affecting cartilage and connective tissues. |
