Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/55026
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dc.contributor.authorDemos, M.en
dc.contributor.authorFullston, T.en
dc.contributor.authorPartington, M.en
dc.contributor.authorGecz, J.en
dc.contributor.authorGibson, W.en
dc.date.issued2009en
dc.identifier.citationAmerican Journal of Medical Genetics. Part A, 2009; 149A(7):1482-1486en
dc.identifier.issn1552-4825en
dc.identifier.issn1552-4833en
dc.identifier.urihttp://hdl.handle.net/2440/55026-
dc.description.abstractPathogenic variations of the ARX (aristaless-related homeobox) gene are associated with marked phenotypic pleiotropy. These phenotypes are X-linked neurological disorders that include brain and genital malformation and non-malformation syndromes. Typically, malformation phenotypes result from pathogenic variations that are predicted to truncate the ARX protein, or alter residues in the highly conserved homeodomain. While non-malformation phenotypes tend to be caused by pathogenic variations that are predicted to expand the first two polyalanine tracts of ARX, or alter residues outside of the homeodomain. The most common pathogenic variation of the ARX gene is a duplication of 24 bp, c.429_452 dup, which leads to an expansion of the second polyalanine tract of the ARX protein from 12 to 20 alanine residues. This pathogenic variation is associated with both sporadic and familial nonsyndromic mental retardation. Syndromic manifestations include mental retardation with hand dystonia (Partington syndrome), infantile spasms (West syndrome) and/or other epileptic seizures. Here, we report on a novel pathogenic variant of a tandem 33 bp duplication that is predicted to result in an expansion of polyalanine tract 2 in two brothers with mental retardation, epilepsy, dystonia, and the novel feature of intermittent hyperventilation. This pathogenic variation is predicted to result in a "non-homogeneous" polyalanine tract expansion that is longer than predicted expansion caused by the common 24 bp duplication. The location of the novel 33 bp duplication in the same region as the common 24 bp duplication supports this region as the ARX variation "hot spot."en
dc.description.statementofresponsibilityMichelle K. Demos, Tod Fullston, Michael W. Partington, Jozef Gécz and William T. Gibsonen
dc.language.isoenen
dc.publisherWiley-Lissen
dc.subjectARX gene; polyalanine expansions; dystonia; seizuresen
dc.titleClinical Study of Two Brothers With a Novel 33 bp Duplication in the ARX Geneen
dc.typeJournal articleen
dc.identifier.rmid0020091024en
dc.identifier.doi10.1002/ajmg.a.32851en
dc.identifier.pubid38638-
pubs.library.collectionPaediatrics publicationsen
pubs.verification-statusVerifieden
pubs.publication-statusPublisheden
dc.identifier.orcidFullston, T. [0000-0003-1314-3038]en
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]en
Appears in Collections:Paediatrics publications

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