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- aggregation classification "A1".
- aggregation creator B936805.
- aggregation creator B936806.
- aggregation creator B936807.
- aggregation creator B936808.
- aggregation creator B936809.
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- aggregation creator B936813.
- aggregation creator person.
- aggregation date "2014".
- aggregation format "application/pdf".
- aggregation hasFormat 5847176.bibtex.
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- aggregation isPartOf urn:issn:0340-6717.
- aggregation language "eng".
- aggregation rights "I have transferred the copyright for this publication to the publisher".
- aggregation subject "Medicine and Health Sciences".
- aggregation title "De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation".
- aggregation abstract "Xq28 microduplications of MECP2 are a prominent cause of a severe syndromic form of intellectual disability (ID) in males. Females are usually unaffected through near to complete X-inactivation of the aberrant X chromosome (skewing). In rare cases, affected females have been described due to random X-inactivation. Here, we report on two female patients carrying de novo MECP2 microduplications on their fully active X chromosomes. Both patients present with ID and additional clinical features. Mono-allelic expression confirmed complete skewing of X-inactivation. Consequently, significantly enhanced MECP2 mRNA levels were observed. We hypothesize that the cause for the complete skewing is due to a more harmful mutation on the other X chromosome, thereby forcing the MECP2 duplication to become active. However, we could not unequivocally identify such a second mutation by array-CGH or exome sequencing. Our data underline that, like in males, increased MECP2 dosage in females can contribute to ID too, which should be taken into account in diagnostics.".
- aggregation authorList BK1323280.
- aggregation endPage "1367".
- aggregation issue "11".
- aggregation startPage "1359".
- aggregation volume "133".
- aggregation aggregates 5847188.
- aggregation isDescribedBy 5847176.
- aggregation similarTo s00439-014-1469-6.
- aggregation similarTo LU-5847176.