Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance

Jill Clayton-Smith, Sarah Walters, Emma Hobson, Emma Burkitt-Wright, Rupert Smith, Annick Toutain, Jeanne Amiel, Stanislas Lyonnet, Sahar Mansour, David Fitzpatrick, Roberto Ciccone, Ivana Ricca, Orsetta Zuffardi, Dian Donnai

Research output: Contribution to journalArticlepeer-review


Xq28 duplications encompassing MECP2 have been described in male patients with a severe neurodevelopmental disorder associated with hypotonia and spasticity, severe learning disability and recurrent pneumonia. We identified an Xq28 duplication in three families where several male patients had presented with intestinal pseudo-obstruction or bladder distension. The affected boys had similar dysmorphic facial appearances. Subsequently, we ascertained seven further families where the proband presented with similar features. We demonstrated duplications of the Xq28 region in five of these additional families. In addition to MECP2, these duplications encompassed several other genes already known to be associated with diseases including SLC6A8, L1CAM and Filamin A (FLNA). The two remaining families were shown to have intragenic duplications of FLNA only. We discuss which elements of the Xq28 duplication phenotype may be associated with the various genes in the duplication. We propose that duplication of FLNA may contribute to the bowel and bladder phenotype seen in these seven families.
Original languageEnglish
Pages (from-to)434-43
Number of pages10
JournalEuropean Journal of Human Genetics
Issue number4
Publication statusPublished - Apr 2009


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