KMT2D is one such highlighter that enables DNA to be read. This gene is located on chromosome 12. KMT2D marks histones to open chromatin, which enables the DNA to be read, and ultimately influences gene expression (how your body looks and functions). Variants in KMT2D that cause Kabuki syndrome result in too much closed chromatin, and the instructions in DNA cannot be read.
Without these instructions, gene expression is changed during development and throughout life, and this leads to the symptoms of Kabuki syndrome. Researchers are exploring different ways to restore the balance between open and closed chromatin to treat symptoms of Kabuki syndrome.9