Category Archives: Genetics

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

Lupus and MECP2

Systemic lupus erythematosus (SLE) CAUTION2is an autoimmune disease that most frequently affects women between the ages of 15 and 35 but can affect both males and females of any age. It can be severe and life-threatening with periods of acute illness and remission.

Recent studies have suggested that the MECP2 gene the neighboring IRAK1 gene play a role in Lupus Continue reading

Bone Density, Osteopenia, Osteoporosis, and Fractures: Part 1

This entry starts a short series on bone density and risk of fractures in children and adults with MECP2 Duplication Syndrome. May be a good place to start is to say that bone density issues are not well recognized as a characteristic of MECP2 Duplication Syndrome. Nevertheless there are a number of reasons to suspect that bone density issues and fractures are special concerns for individuals with MECP2 Duplication Syndrome.

First, in May 2011, when families  got together in Houston for the first MECP2 Duplication Syndrome Family Conference, Continue reading

New Perspectives on Carrier Status

RESEARCHBack when I was going to school, I learned that on average every human being is a carrier for about 8 different  genetic defects. That was a long time ago, long before many modern advances in genetics including mapping of the human genome. We now know that most people are carriers of at least 400 genetic variants, and this number is likely to increase as genetic science progresses. Continue reading

DSM-IV / DSM-V: Autism, Rett, and MECP2 Duplication Syndrome

lightbulbThere has been a great deal of concern about “the removal of Rett syndrome” from the DSM-V. For those who aren’t familiar with the DSM, it is the Diagnostic and Statistical Manual of the American Psychiatric Association. Here is the issue: The DSM-IV had a category called Autism Spectrum Disorder. It included Autism and a few other things that were not exactly autism, but shared some features of autism. Included in the Autism Spectrum Disorder was Rett Syndrome. So it defined Rett syndrome as part of the spectrum but different from AUTISM itself. The new definition makes no mention of Rett syndrome and many people interpret that as saying that Rett syndrome has been taken out of the DSM. Continue reading