Kabuki syndrome

Most patients with Kabuki syndrom have a mutation or a deletion in the KMT2D gene that presents an autosomal dominant transmission pattern.  

This means that for a child to express the disease it is sufficient for him to have one of the 2 copies of the gene mutated or deleted in one of the autosomal chromosomes (all but the X and Y sex chromosomes). If this patient could have children in the future, he/she would have a 50% chance of having affected children. All patients with the genetic alteration in this first gene are de novo, it is not inherited from either parent.  

For the second gene, KDM6A, X-linked dominant inheritance is used to mean that the affected gene is on the X chromosome, which is one of the sex chromosomes. Females have two X chromosomes and males have one X and one Y chromosome. This causes females with one copy of the X chromosome altered to have symptoms because the altered gene dominates the normal one. In males, who have only one copy, they will always express the symptoms in a more marked way. The vast majority of children with the alteration in this second gene is also de novo or in rare cases it can be inherited from the mother, never from the father.