Kabuki syndrome


How does Kabuki syndrome run in families?

Kabuki syndrome is caused by mutations in the KMT2D gene. It is inherited in an autosomal dominant pattern. We have two copies of every gene. In autosomal dominant disorders, only one copy of the gene needs to be damaged in order for a person to have the disorder. When someone with Kabuki syndrome has children, they have a 50% chance to pass on the broken copy of the gene. They have a 50% chance to pass on the working copy. This means that on average, half of their children will be affected.

Most of the time a child with Kabuki syndrome does not have a parent with Kabuki syndrome. It is usually a new genetic change (mutation). This is called a de novo mutation. De novo means that this is a new change in this individual and was not inherited from a parent. De novo mutations happen randomly. In these cases, there is a low chance (less than 1%) to have another child with Kabuki syndrome. A genetic counselor can explain how KS is inherited and the risks to other family members. To find a genetic counselor near you, visit the Find a Genetic Counselor tool on the National Society of Genetic Counselors website.

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