Andermann syndrome
Inheritance
How is Andermann Syndrome inherited?
Andermann Syndrome is inherited in an autosomal recessive pattern, meaning that both copies of the SLC12A6 gene in cells carry the gene change. The parents of children with autosomal recessive conditions each carry one copy of the gene change but usually do not show signs of the condition themselves. If both parents carry a change in the SLC12A6 gene, each pregnancy between the parents of the affected child will have a 25% (1 in 4) chance of receiving two copies of the gene change causing the baby to have Andermann Syndrome. Approximately 50% (1 in 2) of the children between the parents of the affected child would have one copy of the change making them carriers and likely unaffected, while 25% (1 in 4) of children would have two normal copies of the gene.
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Why might a child be tested for Andermann Syndrome?
Why might a child be tested for Andermann Syndrome?
Children with the symptoms of Andermann Syndrome including low muscle tone, a loss of movement, damage to the nerves responsible for movement and sensation that gets worse over time, missing reflexes, and those who have had an MRI that revealed that they were either missing or had an undeveloped area of tissue that connects the left and right sides of the brain (corpus callosum) would be candidates for SLC12A6 testing to confirm the diagnosis. A genetic professional near you can help to discuss and coordinate testing. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. Genetic counselors can be found on the National Society of Genetic Counselors website.
I already have one child with Andermann Syndrome, what is the chance that I will have a second child with the condition?
Andermann Syndrome is inherited in an autosomal recessive pattern, meaning that both parents of the child likely carry a change in the SLC12A6 gene. Each pregnancy between the parents of the affected child will have a 25% (1 in 4) chance of receiving two copies of the gene change causing them to have Andermann Syndrome. Approximately 50% (1 in 2) of the children between the parents of the affected child would have one copy of the change making them carriers and likely unaffected, while 25% (1 in 4) of children would have two normal copies of the gene.
