• Question: do you know anything about kabooki symdrom

    Asked by 349nenp34 to Tiernan, Sonia, Mossy, Maureen, Bernard on 8 Nov 2018.
    • Photo: Sonia Lenehan

      Sonia Lenehan answered on 8 Nov 2018:

      I did not know anything about it until it was mentioned in a chat a few days ago so I went and I researched it. I now know that it is something you are born with, it needs to be properly managed by doctors and that it is caused by one of your genes changing or mutating as it is called in science. The genes that mutate are called KMT2D and KDM6A. The mutation means that these genes stop making 2 types of proteins that are needed for development. It was really interesting learning about this syndrome! Thanks for teaching me something new!

    • Photo: Maureen

      Maureen answered on 8 Nov 2018:

      I didn’t know about Kabuki Syndrome until I saw this question. It’s very interesting and I hope doctors and medical scientists are able to help people with the condition in the future.

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