AKA MECP2 Duplication Syndrome

CAUTION2Over the years, MECP2 Duplication Syndrome has been also know as (AKA) a number of other names. Some of these might be considered to be exact duplicates. Others are overlapping categories. Here is a short (and likely incomplete)  list of names, posted here for two reasons. (1) this may help families or other interested people to find this website if they have been given one of the other names. (2) If anyone is searching for information regarding MECP2 Duplication Syndrome, they may have better results if they use a number of these search terms.

Distal Duplication Xq This is a broader category that includes MECP2 Duplication Syndrome and also some others caused by gene duplications that don’t include MECP2

dup MECP2 This is a short simple term for MECP2 Duplication Syndrome, but it may be ambiguous. Symptom free carriers DO have dup MECP2 but they do not have MECP2 Duplication Syndrome which refers to the constellation fo symptoms caused by the duplication.

Intellectual Disability X-linked Lubs Type Also note, older versions of these names use (Mental Retardation X-linked Lubs Type) which has been updated to Intellectual Disability with the modernization of terminology, so both versions are still in use.Before MECP2 Duplication Syndrome was clearly identified Lubs described a syndrome that was X-linked and included many of the features of MECP2 duplication syndrome. We didn’t have the precise genetic testing, so it is difficult to say whether it was precisely the same as MECP2 duplication syndrome, but it appears to have been pretty much the same thing. So this might be considered an older less precise name for the syndrome but it is still used in some cases.

Lubs-Arena Syndrome This is another leftover version of the Lubs terminology.

Lubs X-linked Intellectual Disability (Lubs XLID) This is another leftover version of the Lubs terminology. Also note, older versions of these names use Lubs X-linked Mental Retardation (Lubs XLMR), which has been updated to Intellectual Disability with the modernization of terminology, so both versions are still in use. For many of us Mental Retardation  is a stigmatized and stigmatizing word, but some people continue to use it, even if it is outdated. (They same people probably still call their cars horseless carriages.)

OMIM 300260 or OMIM #300260 OMIM stands for Online Mendelian Inheritance in Man. It catalogs genetic disorders and the number of each number far a disorder is unique even when there are multiple names used. The # sign is often used to indicate that it is caused by an extra copy of a gene.

Telomeric Duplication Xq There appear to be some other Xq duplications that do not include MECP2 duplication and produce different symptoms, so MECP2 Duplication appears to be part of this broader category.

Trisomy Xq28

XLID – Hypotonia – Recurrent Infections

Xq28 Duplication Like Telomeric Duplication Xq this refers to a duplication in this region and typically includes MECP2. The X refers to the X chromosome, the q refers to the long arm and the 28 refers to the region. Regions start at 1 where the long and short arms come together and 28 is at the tail end.

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