SLC12A6

Several SLC12A6 gene variants (mutations) have been identified in people with Andermann syndrome. This condition damages the nerves used for muscle movement and sensation (motor and sensory neuropathy). Almost all affected individuals of French-Canadian descent have the same variant in both copies of the SLC12A6 gene, in which the DNA building block (nucleotide) guanine is deleted at position 2436 (written as 2436delG). This variant is common in the populations of the Saguenay-Lac-St.-Jean and Charlevoix regions of northeastern Quebec. Most SLC12A6 gene variants that cause Andermann syndrome result in a KCC3 protein that is shortened and nonfunctional.

The lack of functional protein produced from the SLC12A6 gene is believed to interfere with the development of the left and right halves of the brain (corpus callosum) and maintenance of the nerves that transmit signals needed for movement and sensation, resulting in the signs and symptoms of Andermann syndrome.

MedlinePlus Genetics provides information about Charcot-Marie-Tooth disease