Category Archives: Genetics

MECP2 Duplication is Not So Rare as Once Thought

NEW3Although MECP2 Duplication Syndrome (or Xq28 Duplication) is correctly identified as a rare condition, available research suggests that it is not as rare as we once thought. For example, Japanese researchers published a 2014 study in Human Genome Variation that described from results of 1,250 patients with intellectual disabilities who had not received specific diagnoses. The researchers performed advance genetic testing on these 1,250 patients and found probable genetic causes for 17% of these individuals. Many different genetic conditions were found among these 17% of patients. However, one condition was found more frequently than any other. That condition was Xq28 duplication with duplication of the MECP2 gene. This suggests that MECP2 Duplication Syndrome is not nearly as rare as once believed and that many cases continue to go diagnosed.

In the words of the researchers: Continue reading


Syndromes, Clinical Syndromes, Genetic Syndromes, and Associations

CAUTION2The term syndrome gets used a lot by healthcare professionals and by the public in general. Most people have a fairly good idea of what it means, but it may be helpful to look a little closer. Syndrome comes from a Greek word meaning concurrence, things that are commonly found together. So, syndrome is generally used to refer to a group or pattern of symptoms that typically go together.  That much is pretty straight forward. Sometimes, however, syndrome has a narrower, more specific meaning. Continue reading

Chromosome Disorder Awareness Week ( 7 – 13 th June 2015 )


As strange as it may seem rare chromosomal disorders are quite common.

Sunday, June 7th, starts Chromosome Disorder Awareness Week. Unique is an international organization that raises awareness of chromosome disorders  and their Awareness week kicks off 7 June 2015. For more information, check out their press release.

MECP2 and the Immune System

mouseI usually don’t use this blog to comment on research that is primarily oriented toward Rett syndrome. Others with more expertise related to Rett syndrome can do a much better job of that. A recent article on Rett syndrome mice, however, deserves a bit of comment here because of its possible implications for MECP2 duplication syndrome. In “Methyl-CpG Binding Protein 2 Regulates Microglia and Macrophage Gene Expression in Response to Inflammatory Stimuli,” Cronk and colleagues raise the question of whether the role of the MECP2 gene in regulating the immune system could be central to most or all of the other problems seen in Rett syndrome. This possibility has been raised before both with Rett syndrome and MECP2 duplication syndrome, and this research provides some additional reason to take this hypothesis seriously. Continue reading

Long Gene Expression

flaskGabel, H. W., Kinde, B., Stroud, H., Gilbert, C. S., Harmin, D. A., Kastan, N. R., et al. (2015). Disruption of DNA-methylation-dependent long gene repression in Rett syndrome. Nature. doi: 10.1038/nature14319

This new study may accelerate research on finding useful treatments for treating both Rett syndrome and MECP2 Duplication syndrome. It has been well-established that the MECP2 gene plays an important role in promoting the expression of some genes and inhibiting the expression of others. Now researchers have found that while it affects many genes, it has a greater impact on long gene expression. Continue reading

CAGE-defined promoter regions of the genes implicated in Rett Syndrome

flaskCAGE-defined promoter regions of the genes implicated in Rett Syndrome BMC Genomics 2014, 15:1177 doi:10.1186/1471-2164-15-1177

This just published article may be an important step forward in understanding MECP2 Duplication Syndrome and other MECP2 related disorders. Genes don’t work in isolation; they interact with each other. Promoter genes are the genes that turn up the activity of other genes. This article adds to the understanding of which other genes may interact with MECP2. It may help to understand why some individuals with MECP2 Duplications are more severely affected than others.

It may also provide an early start to understanding how MECP2 Duplication Syndrome can be treated to reduce the overactivity of MECP2 and possibly reduce the severity of symptoms. It is a long way from producing practical help, but it is good to know that researchers are working on these basic issues.

GEMSS: Genetics Educational Materials for School Success

GEMSSGEMSS: Genetics Educational Materials for School Success is a website that provides educational materials for school personnel to support the inclusion of students with genetic syndromes in the classroom. They have recently added a useful section on MECP2 duplication syndrome.

The site also includes a sections on many other genetic conditions, such as Rett syndrome and Angelman syndrome.

Regardless of the school placement of your child, this can be very helpful information to share with your child’s school.

X-Linked Transmission


This describes how the X-linked MECP2 Duplication Syndrome is inherited across generations

3 Cautions

First, this is not intended to be medical advice and individual factors may vary. So if you need expert help to make important reproductive decisions, consult your physician or genetic counselor. Second, I need to say I am not a geneticist and certainly not an expert, so this is just my understanding. If anyone has important additional information or corrections, let me know. I will take them under consideration. Third, even for my level of knowledge, this is a simplified explanation.

How it works

Most cases are transmitted as X-linked genetic traits from mothers to sons.

Let’s look at how this works, but first let’s just look at how chromosomes determine whether an individual is a male or female.

All females have two X chromosomes. Each female inherits one of  those Xs from her mother and one X from her father.

All males have one X chromosome and one Y chromosome. Each male inherits one X from his mother and one Y from his father. Continue reading

27 Laboratories that Currently Test For MECP2 Duplication Syndrome

Xq28duplicationThe National Center for Biotechnology Information’s Genetic Testing Registry currently lists 27 labs that test for MECP2 Duplication Syndrome.

The List of 27 includes labs located in the United States, Canada, Germany, the United Kingdom, Spain, Portugal, France, and Sweden. Since listing is voluntary and there are likely to be a number of other labs that currently due testing. As testing becomes commonplace the number of diagnosed cases is rapidly increasing.

Dr. Huda Zoghbi Awarded Dickson Prize in Medicine

Zoghbi_Huda_sThis year’s recipient of the Dickson Prize in Medicine will go to Baylor College of Medicine’s Dr. Huda Zoghbi. The award, established by the Dickson Family through The University of Pittsburgh’s School of Medicine, goes to an outstanding American medical researcher to  Medicine.cMany of the former recipients are also Nobel Prize laureates.

Dr. Zoghbi’s work has been essential in advancing our understanding of Rett syndrome and MECP2 duplication syndrome, among many other important achievements. Continue reading