The advancement of research is an important part of diagnosing and understanding Kabuki syndrome. Alhough KSN has worked in concert with past studies, we have not yet actively raised funds in support of research projects. We would like to encourage anyone who is interested in setting up a research foundation to contact KSN.

Hints for Parents

Social Stories

Social stories help our children better predict the actions and assumptions of others. There are many websites that demonstrate how to make your own!


Connections Lead to Research


While Dr. Bjornsson gave a presentation and participated in the Q&A, Dr. Weissman met with individuals and their parents to gather baseline cognitive and behavioral research.

tags: Genetics, Studies
Last updated: Wednesday, August 30, 2017 - 07:58

Epigenetics and How it Relates to Kabuki Syndrome

Whenever we read about the KMT2D (MLL2) and the KDM6A genesi, the 2 presently known causative genes of Kabuki, the term ‘epigenetics’ is thrown around.  What does it all mean?

tags: Genetics
Last updated: Saturday, July 23, 2016 - 06:33

Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene


tags: Genetics
Last updated: Saturday, April 12, 2014 - 21:26

KMT2D maintains neoplastic cell proliferation and global histone H3 lysine 4 monomethylation


tags: Genetics
Last updated: Saturday, April 12, 2014 - 18:52

A Novel MLL2 Gene Mutation in a Korean Patient with Kabuki Syndrome


tags: Genetics
Last updated: Monday, September 22, 2014 - 19:54

MLL2 is Synonymous with KMT2D

Online articles will refer to both the KMT2D and MLL2 genei as being the causative agent in 70 - 75% of individuals with Kabuki syndrome.  This can be confusing.  In many cases, more than one name have been assigned to a specific gene, dependent on naming systems and nomenclature committees.  In this case, the two are used interchangeably.  The KMT2D gene should not be confused with the KDM6A gene, which is the second causative gene of Kabuki syndrome. 

Last updated: Saturday, April 12, 2014 - 14:39

Exploring Kabuki Syndrome as a Treatable Cause of Intellectual Disability

One of Johns Hopkins’ NIH award recipient, Bjornsson, is based in the school of medicine’s McKusick-Nathans Institute of Genetic Medicine. His research group studies genetic disorders with epigenetici consequences. These disorders often affect proteins known as histones, which associate with DNAi and can affect whether genesi are turned “off” or “on.” The group’s particular focus is on Kabuki syndrome, which causes intellectual disability, immunological problems and distinctive facial features. Bjornsson is looking for ways to treat the disease by correcting a problem with chemical groups added to the histone tails.

tags: Genetics, Studies
Last updated: Sunday, May 25, 2014 - 08:30

Report of the First Clinical Case of a Moroccan Kabuki Patient with a Novel MLL2 Mutation


tags: Genetics
Last updated: Wednesday, June 4, 2014 - 14:46

MLL2 and KDM6A Mutations in Patients with Kabuki Syndrome



An indepth study of 81 individuals with a clinical diagnosis of Kabuki.  Clinical comparisons were made between various groups -  MLL2 positive and negative groups, MLL2 and KDM6A groups, and MLL2 truncating and non-truncating types.

tags: Genetics
Last updated: Wednesday, June 4, 2014 - 14:52

Genetic Research in Italy

There are numerous Kabuki studies, worldwide, that need your donations!  The Merla group, based in Italy, is one such project.

tags: Genetics, Studies
Last updated: Thursday, April 17, 2014 - 07:40