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.

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

Connections Lead to Research

SOUTHERN CALIFORNIA GATHERING A SUCCESS!

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: Thursday, July 31, 2014 - 21:56

Rare Diseases - Diagnosis, Therapies, and Hope

This is a free e-book authored by Ana Sanfilippo and Jimmy Lin, MD, PhD, MHS.  Jimmy Lin is the president of Rare Genomics Institute, a  nonprofit that uses crowdfunding to help find cures for children with rare diseases.  The book includes:

tags: Genetics
Last Updated: Monday, April 28, 2014 - 07:47

Epigenetics and How it Relates to Kabuki Syndrome

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

tags: Genetics
Last Updated: Friday, April 25, 2014 - 08:08

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

isomerism

tags: Genetics
Last Updated: Saturday, April 12, 2014 - 22:26

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

KMT2D

tags: Genetics
Last Updated: Saturday, April 12, 2014 - 19:52

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

Korean

tags: Genetics
Last Updated: Saturday, April 12, 2014 - 15:38

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 - 15:39

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 epigenetic consequences. These disorders often affect proteins known as histones, which associate with DNA and can affect whether genes 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