Genetics

Summary

We are living in an era of extremely fast developing advancements in the field of genetics. With the completion of full genome mapping, there has been a race to improve our understanding of human genetics.

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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.

Genetics 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.  

Author(s):
tags: Genetics, Studies
Last Updated: Wednesday, May 15, 2013 - 08:09

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.
Author(s):
tags: Genetics
Last Updated: Monday, April 15, 2013 - 13:21

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."
Author(s):
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.

Author(s):
Dr. Norio Niikawa
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:
Author(s):
tags: Genetics
Last Updated: Monday, April 15, 2013 - 13:23

Kabuki syndrome: A deficient highlighter in the book of life.

The human body has many different cells yet they all share identical information content. The human genome (the book of life), which is the encyclopedia of all the machinery in all the cells has about 20000 genes (words). How does a cell decide which genes (words) to use at a specific time? One way is through the use of epigenetics. Epigenetic modifications sit close to the genes (words) they affect and thereby essentially highlight (or strikethrough) the genes (words) that should be used by that cell type at that time. 

Author(s):
Hans Bjornsson
tags: Genetics, Studies
Last Updated: Thursday, March 21, 2013 - 11:38

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.

Author(s):
Dr. Mark Hannibal
tags: Genetics
Last Updated: Monday, June 13, 2011 - 09:43

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?

Author(s):
Margot Schmiedge
Maggie Mcmillin
tags: Genetics
Last Updated: Monday, January 16, 2012 - 10:21