Genetics

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Obsess to Success

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

Genetics Articles

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 - 09:30

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

NovelMLL2Mutation

tags: Genetics
Last Updated: Wednesday, June 4, 2014 - 15:46

MLL2 and KDM6A Mutations in Patients with Kabuki Syndrome

MLL@andKDM6ADeletion

 

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 - 15:52

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 - 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

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

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