TY - JOUR
T1 - XLMR in MRX families 29, 32, 33 and 33 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene
AU - Stepp, Monica L.
AU - Cason, A. Lauren
AU - Finnis, Merran
AU - Mangelsdorf, Marie
AU - Holinski-Feder, Elke
AU - Macgregor, David
AU - MacMillan, Andrée
AU - Holden, Jeanette J.A.
AU - Gecz, Jozef
AU - Stevenson, Roger E.
AU - Schwartz, Charles E.
N1 - Copyright:
Copyright 2008 Elsevier B.V., All rights reserved.
PY - 2005/4/25
Y1 - 2005/4/25
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=26444468588&partnerID=8YFLogxK
U2 - 10.1186/1471-2350-6-16
DO - 10.1186/1471-2350-6-16
M3 - Article
C2 - 15850492
AN - SCOPUS:26444468588
SN - 1471-2350
VL - 6
JO - BMC Medical Genetics
JF - BMC Medical Genetics
M1 - 16
ER -