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SALSA MLPA Probemix P395 MEF2C-FOXG1

mental retardation

Region: MEF2C 5q14.3, FOXG1 14q12

Mental retardation can be provoked by different chromosomal aberrations for example deletions of the chromosomal regions 5q14.3 and 14q12. Deletions of the 5q14.3 region mainly affect MEF2C (myocyte enhancer factor 2C), and it was shown that microdeletions in this gene are involved in severe mental retardation, stereotypic movements, epilepsy, and/or cerebral malformation (Zweier et al. 2010; Le Meur et al. 2010; Nowakowska et al. 2010). Another gene that has been implicated in mental retardation is the FOXG1 (forkhead box G1) gene. Its deletion could be linked to a congenital variant of Rett syndrome (Mencarelli et al. 2009; Kortüm et al. 2011).

The MEF2C gene (11 exons) spans ~186 kb of genomic DNA and is located on chromosome 5q14.3, ~88 Mb from the p-telomere. This P395-A2 probemix contains probes for each exon of MEF2C. Furthermore: also, one additional probe for exon 4 and 11; two for exon 5; two for intron 2; one for introns 3, 7, 8 are included in this probemix. Furthermore, the probemix contains four flanking probes for MEF2C. Two are located downstream in the TMEM161B and RASA1 genes and two upstream in the GPR98 and CETN3 genes.

The FOXG1 gene (1 exon) spans ~3.2 kb of genomic DNA and is located on chromosome 14q12, ~28 Mb form the p-telomere. This P395-A2 probemix contains three probes for exon 1 and two probes upstream of exon 1. In addition, 11 reference probes are included in this probemix, detecting several different autosomal chromosomal locations.

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the aforementioned gene(s) in a DNA sample. Heterozygous deletions of recognition sequences should give a 35-50% reduced relative peak height of the amplification product of that probe. Note that a mutation or polymorphism in the sequence detected by a probe can also cause a reduction in relative peak height, even when not located exactly on the ligation site! In addition, some probe signals are more sensitive to sample purity and small changes in experimental conditions. Therefore, deletions and duplications detected by MLPA should always be confirmed by other methods. Not all deletions and duplications detected by MLPA will be pathogenic; users should always verify the latest scientific literature when interpreting their findings. We have no information on what percentage of defects in these genes is caused by deletions/duplications of complete exons. Finally, note that most defects in this gene are expected to be small (point) mutations which will not be detected by this SALSA® MLPA® test.

Order Items

Probemix

Item no.
Description
Technology
Price
P395-025R
SALSA MLPA Probemix P395 MEF2C-FOXG1 – 25 rxn
€ 243.00
P395-050R
SALSA MLPA Probemix P395 MEF2C-FOXG1 – 50 rxn
€ 486.00
P395-100R
SALSA MLPA Probemix P395 MEF2C-FOXG1 – 100 rxn
€ 972.00

Required Reagents

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA EK1 reagent kit – 100 rxn – FAM
€ 300.00
EK1-Cy5
SALSA MLPA EK1 reagent kit – 100 rxn – Cy5
€ 300.00
EK5-FAM
SALSA MLPA EK5 reagent kit – 500 rxn – FAM
€ 1380.00
EK5-Cy5
SALSA MLPA EK5 reagent kit – 500 rxn – Cy5
€ 1380.00
EK20-FAM
SALSA MLPA EK20 reagent kit – 2000 rxn – FAM
€ 5295.00

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