Research

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

Obsess to Success

Many children with Kabuki fixate on something they enjoy. Incorporating their fixation into their school work can facilitate learning.

Articles

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 - 08:40

Mirror-Image Asymmetry in Monozygotic Twins with Kabuki Syndrome

 

Monozygotic TwinsMonozygotic twins with Kabuki syndrome broaden the spectrum of MLL2 mutations and constitute a rare example of mirror-image asymmetry of congenital malformations in monozygotic twins.
tags: Genetics
Last updated: Thursday, April 17, 2014 - 08:51

Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome

 

Deletion of KDM6A"We report KDM6A mutations as a cause of KS in one male and two females. Our findings confirm both KS genetic heterogeneity and a locus on the X chromosome, as has been suggested previously."
tags: Genetics
Last updated: Monday, April 15, 2013 - 13:22

Kabuki Syndrome - Another Locus?

Another Locus?Approximately 75% of individuals with a clinical diagnosis of Kabuki are caused by an MLL2 mutation.  According to a study published in July 2011 the presenting characteristics of MLL2 mutation-positive cases did not differ greatly from the MLL2 mutation-negative cases. the one exception being that renal anomalies were more common in the mutation-positive group.

tags: Genetics
Last updated: Monday, April 15, 2013 - 13:22

Spectrum of MLL2 (ALR) mutation in 110 cases of Kabuki Syndrome

 

Spectrum of MLL2"Herein we report on the results of screening MLL2 for mutations in 110 families with one or more individuals affected with Kabuki syndrome in order to:
tags: Genetics
Last updated: Monday, April 15, 2013 - 13:23

Computer-based Facial Recognition Software

Facial Dysmorphology Novel Analysis (FDNA) is a company that uses face-recognition software to detect syndromes that have a distinct facial gestalt by analyzing 2D facial photos.  They will provide a simple free downloadable mobile application that can be used in the clinical settings by health professionals.  

tags: Diagnosis
Last updated: Monday, April 15, 2013 - 08:38

Discovery of a Gene for Kabuki Syndrome by Exome Sequencing

Video presentation by geneticist Dr. Mark Hannibal at the American Society of Human Genetics 2010 meeting.

tags: Genetics
Last updated: Monday, June 13, 2011 - 09:43

Genetic Testing for Kabuki Syndrome

Numerous laboratories are now offering blood tests to confirm if an individual carries the MLL2 genei mutation.

tags: Diagnosis
Last updated: Thursday, August 11, 2011 - 17:45

Kabuki Syndrome Network 2001 Survey Results - The Frequency of Birth Defects, Neurobehavioral and Social Challenges

A synopsis of the 2001 KSN-generated questionnaire sent to families to determine the frequency of a wide number of characteristics.

tags: Studies
Last updated: Thursday, April 28, 2011 - 09:37

Understanding the Genetics of Kabuki

Most of us don’t have an insatiable desire to understand genetics, but we all have some basic curiosity as to what our bodies are made of.  How does it all work?

tags: Genetics
Last updated: Saturday, January 24, 2015 - 11:10