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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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What Causes Kabuki Syndrome?

is Kabuki syndrome passed on from the other or father? what causes the disorder? what population will have the disorder? which autosomes is/are responsible for causing the disorder? what is the karyotype of the disorder? can this disorder be prevented?
Thu, 14 Aug 2014
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Hematologist,  's  Response
Hi,
Thank you for asking!
Kabuki syndrome is known with the name "Kabuki make up" syndrome. this is a disorder caused by mutations in the MML2 gene , and precisely mostly in the KMT2D gene and only ~ 6% of the cases are caused from mutations in the KDM6A gene. This disease is named Kabuki because of the resemblance of the features of the face of the patients suffering from this disorder with the make up used in the japanese theatres , and in Japan ic called Kabuki. The disease occurs in nearly 3 in 100,000 newborns. Curiously in the patients where Kabuki syndrome is caused by mutations in the KMT2D gene, the disease is inherited in an autosomal dominant pattern, so one copy of the altered gene in each cell is sufficient to cause the disorder, but when Kabuki syndrome is caused by mutations in the KDM6A gene, it is inherited in an X-linked dominant pattern and in this case the father cannot pass X- linked traits to the sons. Most cases of this disorder are sporadic,and this means that the genetic mutation can occur in an individual for the first time and is not inherited from his parents. This means that, parents with a child with Kabuki syndrome generally do not have an increased risk of having another child with this disorder.
it is a rare disorder and cannot be cured.
I think that for the moment cannot be prevented...
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What Causes Kabuki Syndrome?

Hi, Thank you for asking! Kabuki syndrome is known with the name Kabuki make up syndrome. this is a disorder caused by mutations in the MML2 gene , and precisely mostly in the KMT2D gene and only ~ 6% of the cases are caused from mutations in the KDM6A gene. This disease is named Kabuki because of the resemblance of the features of the face of the patients suffering from this disorder with the make up used in the japanese theatres , and in Japan ic called Kabuki. The disease occurs in nearly 3 in 100,000 newborns. Curiously in the patients where Kabuki syndrome is caused by mutations in the KMT2D gene, the disease is inherited in an autosomal dominant pattern, so one copy of the altered gene in each cell is sufficient to cause the disorder, but when Kabuki syndrome is caused by mutations in the KDM6A gene, it is inherited in an X-linked dominant pattern and in this case the father cannot pass X- linked traits to the sons. Most cases of this disorder are sporadic,and this means that the genetic mutation can occur in an individual for the first time and is not inherited from his parents. This means that, parents with a child with Kabuki syndrome generally do not have an increased risk of having another child with this disorder. it is a rare disorder and cannot be cured. I think that for the moment cannot be prevented...