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

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 t...

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Autores principales: Stepp, Monica L, Cason, A Lauren, Finnis, Merran, Mangelsdorf, Marie, Holinski-Feder, Elke, Macgregor, David, MacMillan, Andrée, Holden, Jeanette JA, Gecz, Jozef, Stevenson, Roger E, Schwartz, Charles E
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2005
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1142315/
https://www.ncbi.nlm.nih.gov/pubmed/15850492
http://dx.doi.org/10.1186/1471-2350-6-16
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author Stepp, Monica L
Cason, A Lauren
Finnis, Merran
Mangelsdorf, Marie
Holinski-Feder, Elke
Macgregor, David
MacMillan, Andrée
Holden, Jeanette JA
Gecz, Jozef
Stevenson, Roger E
Schwartz, Charles E
author_facet Stepp, Monica L
Cason, A Lauren
Finnis, Merran
Mangelsdorf, Marie
Holinski-Feder, Elke
Macgregor, David
MacMillan, Andrée
Holden, Jeanette JA
Gecz, Jozef
Stevenson, Roger E
Schwartz, Charles E
author_sort Stepp, Monica L
collection PubMed
description 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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spelling pubmed-11423152005-06-03 XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene Stepp, Monica L Cason, A Lauren Finnis, Merran Mangelsdorf, Marie Holinski-Feder, Elke Macgregor, David MacMillan, Andrée Holden, Jeanette JA Gecz, Jozef Stevenson, Roger E Schwartz, Charles E BMC Med Genet Research Article 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. BioMed Central 2005-04-25 /pmc/articles/PMC1142315/ /pubmed/15850492 http://dx.doi.org/10.1186/1471-2350-6-16 Text en Copyright © 2005 Stepp et al; licensee BioMed Central Ltd.
spellingShingle Research Article
Stepp, Monica L
Cason, A Lauren
Finnis, Merran
Mangelsdorf, Marie
Holinski-Feder, Elke
Macgregor, David
MacMillan, Andrée
Holden, Jeanette JA
Gecz, Jozef
Stevenson, Roger E
Schwartz, Charles E
XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene
title XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene
title_full XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene
title_fullStr XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene
title_full_unstemmed XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene
title_short XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene
title_sort xlmr in mrx families 29, 32, 33 and 38 results from the dup24 mutation in the arx (aristaless related homeobox) gene
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1142315/
https://www.ncbi.nlm.nih.gov/pubmed/15850492
http://dx.doi.org/10.1186/1471-2350-6-16
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