Partial Duplication of MECP2 Gene

A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3′ untranslated region in the MECP2 duplication phenotype

Neil A Hanchard, Claudia MB Carvalho, Patricia Bader, Aaron Thome, Lisa Omo-Griffith, Daniela del Gaudio, Davut Pehlivan, Ping Fang, Christian P Schaaf, Melissa B Ramocki, James R Lupski and Sau Wai Cheung
 BMC Medical Genetics 2012, 13:71 doi:10.1186/1471-2350-13-71

A new report published in BMC Medical Genetics describes a family including a father and daughter with a small Xq28 duplication including part of the MECP2 gene. This report includes several interesting findings.Both father and daughter are reported to have seizures and some degree of learning and communication challenges. The father, however, did not exhibit many of the severe deficits described in most males with MECP2 Duplications, suggesting a milder form to MECP2 Duplication syndrome in males with partial duplications. Perhaps more surprisingly, however, the daughter appeared to be affected as severely and perhaps more severely (this conclusion is a hard to make confidently considering their age differences) than her father suggesting that skewed inactivation may not protect against partial duplications.

Since, these findings are based on a single family, future findings may clarify or even refute them, but this report helps to advance scientific knowledge of the role of MECP2.



2 responses to “Partial Duplication of MECP2 Gene

  1. I was wondering if the father has always had a seizure disorder or if its something he began having as he got older.My son was diagnosed with MCP@ duplication syndrome after his death in 2009.He was 16 years old.I began having these episodes in which I would make chewing movements and do weird things with my hand.I also sometimes will do other types of gestures.They do not show up as seizures on eeg and my mri are physician I saw stated it might be a type of seizure caused from anxiety.just reall interested to know if anyone has had these kind of issues.really worried that down the road I may loose certain abilities like my son did

  2. Hi Michelle,
    I am sorry to hear about your son… that must have been very hard for you and also sorry about the difficulties that you are having. I need to start with a few cautions. I am not a physician, I can’t give medical advice, and I don’t know all the facts of your situation. It is also important to point out that even for those with a lot more medical knowledge, there is still a great deal to be learned about this gene and particularly about possible effects on women who carry the duplication. Even the most knowledgeable medical professionals may have difficulty telling you if there is a connection between what you are experiencing and what happened with your son if they cannot identify a clear cause for the symptoms that you are having. Having said all this, I will share a few thoughts with you.
    If you have not been tested for the MECP2 duplication and don’t know for sure how your son got it, there is a good chance that you have it, but it is not certain. If you do have it, most women who have it do not have symptoms. There have been some reports of an increased risk for anxiety and depression among women who carry the gene, and some suggestion that they may be at increased risk for seizure disorders (typically mild ones). I say some suggestion because there are really only a few cases reported and it is not possible for science to make firm conclusions on the basis of only a few cases.
    What I can tell you with some assurance is that I have been in contact with a couple of hundred mothers of individuals with MECP2 Duplication Syndrome, I have read most of the medical-scientific papers that describe women who carry the duplication, and I have talked with many professionals who have had contact with a lot of these mothers. Most mothers who carry the duplication are basically symptom free, and when possible symptoms are noted they are generally very mild ones. I have never known or heard of anyone who developed severe symptoms later in life. The symptoms you are experiencing may have nothing to do with your son’s condition. If there is a connection, it seems very unlikely that you will experience the severe problems your son had. I hope you will continue to work with your doctors to determine the cause of your symptoms and get some help with treating them.

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