Is Kabuki syndrome inherited or caused by mutation?

Generally, the onset of Kabuki syndrome can be attributed to both hereditary factors and mutations. If related symptoms appear, prompt medical attention is recommended. The specific analysis is as follows:

In some families, the disease-causing genes associated with Kabuki syndrome may be linked to specific other genes on the chromosomes. During family reproduction, these linked gene combinations are passed down together, leading to a certain genetic predisposition within the family. Additionally, since some cases of Kabuki syndrome are caused by autosomal dominant inheritance, genetic transmission occurs more readily.

However, some cases of Kabuki syndrome are caused by mutations. During the formation of the zygote or early embryonic development, gene mutations occur, while both parents' genes are normal and do not carry disease-causing genes. These de novo mutations may be due to environmental factors, such as a pregnant woman's exposure to harmful chemicals, radiation, or other detrimental influences during pregnancy, which can affect the genetic stability of the embryo, causing normally functioning genes to undergo abnormal changes, thereby triggering Kabuki syndrome.

In daily life, individuals with Kabuki syndrome are advised to maintain a balanced diet and consume more foods rich in nutrients, such as apples, pears, and lettuce, which can help enhance their immune resistance.