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. 2005 Apr 25:6:16.
doi: 10.1186/1471-2350-6-16.

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

Monica L Stepp  1 , A Lauren Cason, Merran Finnis, Marie Mangelsdorf, Elke Holinski-Feder, David Macgregor, Andrée MacMillan, Jeanette J A Holden, Jozef Gecz, Roger E Stevenson, Charles E Schwartz
Affiliations

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

Monica L Stepp et al. BMC Med Genet. .

Abstract

Background: 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.

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Figures

Figure 1
Figure 1
Chromatograph of samples with ARX 24dup mutation. Lane 17 is the 50–500 bp ladder lanes. Lane 14 is a normal control. Lane 3 is an affected male from MRX29. Lane 4 is an affected male from MRX32. Lane 5 is an affected male from MRX33. Lane 6 is a female carrier from MRX38. Lane 7 is a male with (GCG)10+7 ARX mutation. Lane 8 is an affected male with a known dup24 mutation and Lane 9 is a female carrier with the dup24 mutation.
See this image and copyright information in PMC

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