Peer Reviewed Journal of Forensic & Genetic Sciences
Review Article(ISSN: 2638-6062)
Kabuki Syndrome: Current Understanding of Symptoms
and Treatment Strategies Volume 5 - Issue 1
Yalda Zhoulideh*
Graduated with master’s degree in Genetics at Islamic Azad University of Tabriz, Genetic Researcher, Tehran, Iran
Received: May 29, 2023; Published:June 07, 2023
*Corresponding author: Yalda Zhoulideh, Graduated with master’s degree in Genetics at Islamic Azad University of Tabriz, Genetic
Researcher, Tehran, Iran
Kabuki syndrome can be mentioned as one of the most severe and, at the same time, rare genetic abnormalities. The inheritance
pattern of this disorder can be an autosomal dominant or X-linked pattern. In this disease, KMT2D AND KDM6A genes are disrupted,
which encode histone methyltransferase and histone demethylase, respectively. The severity of the disease and associated signs and
symptoms can vary widely but may include distinct facial features, developmental delay, intellectual disability, and limb deformities.
Kabuki syndrome treatment may vary based on the specific symptoms that appear in each individual. This review will examine the
genes involved in this disease, phenotype, clinical manifestations, ways of diagnosis, and treatment of this disease.