XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene

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dc.contributor.authorStepp, M.
dc.contributor.authorCason, A.
dc.contributor.authorFinnis, M.
dc.contributor.authorMangelsdorf, M.
dc.contributor.authorHolinski-Feder, E.
dc.contributor.authorMacgregor, D.
dc.contributor.authorMacMillan, A.
dc.contributor.authorHolden, J.
dc.contributor.authorGecz, J.
dc.contributor.authorStevenson, R.
dc.contributor.authorSchwartz, C.
dc.date.issued2005
dc.description.abstractBACKGROUND: X-linked mental retardation (XLMR) is the leading cause of mental retardation in males. Mutations in the ARX gene in Xp22.1 have been found in numerous families with both nonsyndromic and syndromic XLMR. The most frequent mutation in this gene is a 24 bp duplication in exon 2. Based on this fact, a panel of XLMR families linked to Xp22 was tested for this particular ARX mutation. METHODS: Genomic DNA from XLMR families linked to Xp22.1 was amplified for exon 2 in ARX using a Cy5 labeled primer pair. The resulting amplicons were sized using the ALFexpress automated sequencer. RESULTS: A panel of 11 families with X-linked mental retardation was screened for the ARX 24dup mutation. Four nonsyndromic XLMR families – MRX29, MRX32, MRX33 and MRX38 – were found to have this particular gene mutation. CONCLUSION: We have identified 4 additional XLMR families with the ARX dup24 mutation from a panel of 11 XLMR families linked to Xp22.1. This finding makes the ARX dup24 mutation the most common mutation in nonsyndromic XLMR families linked to Xp22.1. As this mutation can be readily tested for using an automated sequencer, screening should be considered for any male with nonsyndromic MR of unknown etiology.
dc.description.statementofresponsibilityMonica L Stepp, A Lauren Cason, Merran Finnis, Marie Mangelsdorf, Elke Holinski-Feder, David Macgregor, Andrée MacMillan, Jeanette JA Holden, Jozef Gecz, Roger E Stevenson and Charles E Schwartz
dc.identifier.citationBMC Medical Genetics, 2005; 6(1):e16/WWW 1-WWW 4
dc.identifier.doi10.1186/1471-2350-6-16
dc.identifier.issn1471-2350
dc.identifier.issn1471-2350
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]
dc.identifier.urihttp://hdl.handle.net/2440/17364
dc.language.isoen
dc.publisherBioMed Central Ltd.
dc.rights© 2005 Stepp et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
dc.source.urihttps://doi.org/10.1186/1471-2350-6-16
dc.subjectChromosomes, Human, X
dc.subjectHumans
dc.subjectHomeodomain Proteins
dc.subjectTranscription Factors
dc.subjectGene Duplication
dc.subjectMutation
dc.subjectFemale
dc.subjectMale
dc.subjectGenetic Testing
dc.subjectGenetic Carrier Screening
dc.subjectX-Linked Intellectual Disability
dc.titleXLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene
dc.typeJournal article
pubs.publication-statusPublished

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