Andermann syndrome
Causes
What gene change causes Andermann Syndrome?
The gene responsible for causing Andermann Syndrome is SLC12A6. This gene is found on the long arm of chromosome 15. Several changes in the SLC12A6 gene have been shown to cause Andermann Syndrome.
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What happens because of the SLC12A6 gene change?
Does anything make Andermann Syndrome worse?
Is a change in the SLC12A6 gene a predisposition or a cause of Andermann syndrome?
What happens because of the SLC12A6 gene change?
Gene changes in the SLC12A6 gene interrupt the function of a protein that transports potassium (K) and chlorine (Cl). Nonfunctional versions of this protein are believed to interfere with the development of the tissue that connects the left and right sides of the brain (corpus callosum), and the nerves that send signals needed for movement and sensation.
References
Does anything make Andermann Syndrome worse?
There are no known lifestyle or medical risk factors that make the condition worse.
References
Is a change in the SLC12A6 gene a predisposition or a cause of Andermann syndrome?
Changes in the SLC12A6 gene have been shown to cause Andermann Syndrome by disrupting a protein that helps to develop nerve tissue.
