The exact cause of Dubowitz syndrome is currently unknown.
While the precise mechanisms are still being researched, here's what is understood so far, based on current research:
Genetic Factors
- Gene Mutations: Some individuals with Dubowitz syndrome have been found to have mutations in specific genes, such as:
- NSUN4 gene
- LIG4 gene
- Microduplications/Microdeletions: Others show small additions or deletions of DNA, known as microduplications or microdeletions.
Inheritance
- Autosomal Recessive Inheritance: Research indicates that Dubowitz syndrome can be inherited in an autosomal recessive pattern. This means:
- Both parents must carry a copy of the altered gene.
- The affected individual inherits one copy of the altered gene from each parent.
- Parents who carry one altered gene copy usually do not show symptoms of the condition.
Summary
| Factor | Details |
|---|---|
| Cause | Unknown; ongoing research is investigating various genetic components. |
| Gene Mutations | Mutations in genes such as NSUN4 and LIG4 are implicated in some cases. |
| DNA Changes | Microduplications or microdeletions of DNA have been found in some individuals with this condition. |
| Inheritance Pattern | Autosomal recessive is a suggested pattern, where both parents need to carry the gene mutation to pass it to their children. |
It is important to note: While these factors are associated with Dubowitz syndrome, not every case can be explained by them, and the underlying cause remains unclear in many cases.
