Welcome to The MECP2 Duplication UK website. We are a charity run by a group of dedicated parents and carers. We are trying to raise awareness of MECP2 Duplication Syndrome and it’s important that all health care professionals are aware of this website.
We have also set up a forum to discuss and share up-to-date information and receive any present and future developments. We hope everyone finds this website a valuable and useful resource. The first thing you probably want to know is:
What is MECP2 Duplication Syndrome?
The cells, which are the building blocks of our body, contain small structures called chromosomes. There are 46 chromosomes in total made up of 23 pairs. You inherit one of each pair from your mother and the second from your father . Because half of our chromosomes are from our mother and half are from our father we become a mix of both of our parents. One pair of chromosomes contains information which determines which sex you will be and this pair differs in men (XY) and women (XX).. Chromosomes take the form of a long length of a chemical called deoxyribonucleic acid (DNA). This DNA can be split into smaller segments known as genes. Genes act as the blue print for our body, telling cells what proteins to make, and ultimately determining what features we have and how we will grow and develop.
MECP2 duplication syndrome comes about when an individual has an extra copies of the region of DNA on the X chromosome which contains the MECP2 gene. This means that the individual will have one more copy of the MECP2 gene than normal. The region of the X chromosome involved is termed Xq28, so this condition is also often referred to as Xq28 duplication syndrome. MECP2 is just one of the many genes that lie within the Xq28 segment of the X chromosome. Boys are far more likely to be affected by having an extra copy of the MECP2 gene due to an Xq28 duplication. This is because boys have only a single X chromosome, whereas girls have a second, normal X chromosome which can usually cancel out the effects of having a duplication on the other chromosome. There are however some rare occasions when girls may also be affected.
The area of DNA that is duplicated on the X chromosome can vary . Sometimes, other genes can also be duplicated along with the MECP2 gene. The number of genes which are duplicated can vary between one patient and the next. Overall, it is duplication of the MECP2 gene which appears to lead to most symptoms, though as a general rule, the more genes that are duplicated, the more severe the symptoms will be. A lot of research is currently focused at looking into the other genes that can be duplicated along with MECP2 and trying to find out what effect these other genes have on the symptoms of the syndrome.
Significantly Delayed Developmental Milestones:
Rolling over, sitting, and other motor milestones are significantly delayed. Some individuals never walk independently others begin walking at 3-5 years of age or older. Those who do walk typically have a wide unsteady walk.
Most individuals are described as having more receptive language and understanding much of what is said to them. Many individuals are described as losing language skills as they get older. A study conducted by Lugtenberg and colleagues report no speech in 82% of the 55 cases observed.
The loss of motor and language skills over time has been reported in many but not all individuals. Regression frequently occurs around the same time as the Onset of seizures, but the relationship between these symptoms remains unclear at this time.
Severe and Recurring Infections:
Infectious disease and pneumonia are major health challenges and the most frequently reported cause of death for individuals with MECP2 Duplication Syndrome. The underlying cause for this is not entirely clear, and may be multifactorial. Functional immune system weakness does appear to be present in many, reflux, swallowing problems, axial hypotonia, and other factors may contribute to the frequency and severity of lower respiratory infections.
At birth or during the first weeks or months of life these infants typically have low muscle tone. In most cases, low muscle tone persists in the face and trunk into adult life.
Increasing Limb Spasticity:
Over time, the low muscle tone in the limbs is replaced by excessive muscle tone, particularly in the legs. The progression from hypotonia may be seen in childhood but may not occur until adolescence or even adulthood.
Reflux has been noted in about 80% of cases.
Some autistic behaviours, such as hand-flapping and spinning objects, and those who developed speech echolalia, have been observed among many individuals with MECP2 Duplication Syndrome.
Severe or profound intellectual disabilities have been reported in almost all cases.
Low Bone Density and Fractures:
Fractures and poor bone density have been reported frequently. These effects may be associated with diet, anticonvulsant therapy, combined with frequent seizure related falls.
Seizures are very common, and become more common as children get older. As a result, they are less frequent among younger children, but very frequent by the second decade of life. Many different categories of seizures have been reported among individuals with MECP2 Duplication Syndrome but mainly eilepsy, and frequently many different forms are reported in the same individual with the nature of the seizures changing over time.
Excessive drooling, the inability to regulate body temperature adequately, sleep disorders, and bruxism or teeth-grinding and constipation
How do you test for MeCP2 duplication syndrome?
Until recently it was not possible to locate this duplication of DNA because it is so small it can’t be seen under a microscope. However a new techniques, including those called array comparative genomic hybridization (aCGH or microarray analysis) and multiplex ligation-dependent probe amplification (MLPA), mean it is now possible to detect the duplication. DNA is usually obtained for testing from cells in a blood sample, though sometimes enough DNA can be obtained from a saliva sample.