Christianson syndrome
From Wikipedia, the free encyclopedia
| Christianson syndrome | |
|---|---|
| Specialty | Medical genetics  |
| Causes | Mutation in SLC9A6 gene |
Christianson syndrome is an X linked syndrome associated with intellectual disability, microcephaly, seizures, ataxia and absent speech.
Onset of symptoms is normally within the first year of life with truncal ataxia and seizures. The head is small (microcephaly). Common facial abnormalities include: [citation needed]
- Long narrow face
- Prominent nose
- Prominent jaw
- Open mouth
Other common features include:[citation needed]
- Uncontrolled drooling
- Abnormal eye movements
The associated intellectual disability is usually in the profound range.
Those affected often have a happy demeanor with frequent smiling and spontaneous laughter.
Genetics
This condition is caused by mutations in the SLC9A6 gene. This gene is located on the long arm of the X chromosome (Xq26.3). The gene encodes a sodium/hydrogen exchanger located in the endosomes. Mutations in this gene cause a decrease in the pH (overacidification) of the endosomes.[1][2]
How this causes the clinical features is not known presently. The inheritance of this condition is X-linked dominant.
Diagnosis
The diagnosis may be suspected on clinical grounds. It is made by sequencing the SLC9A6 gene. [citation needed]
Differential diagnosis
Management
There is presently no curative treatment. Management is supportive.[citation needed]
