The SALSA MLPA
Probemix P395 MEF2C-FOXG1 is a research use only (RUO)
assay for the detection of deletions or duplications in the MEF2C
genes, which are associated with intellectual disability.
Intellectual disability 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 the MEF2C
gene encoding myocyte enhancer factor 2C. It was shown that microdeletions in this gene are involved in severe intellectual disability, stereotypic movements, epilepsy, and/or cerebral malformation (Zweier 2010; Le Meur 2010; Nowakowska 2010). Another gene that has been implicated in intellectual disability is the FOXG1
gene encoding forkhead box G1. Copy number variants (Mencarelli 2009; Kortüm 2011; OMIM #613454), as well as point mutations (Bahi-Buisson 2010; Allou 2012) have been described in literature as a potential cause of a Rett-like phenotype.
More information on MEF2C
is available at https://www.omim.org/entry/600662
More information on FOXG1
is available at https://www.omim.org/entry/164874
This SALSA MLPA probemix is not CE/FDA registered for use in diagnostic procedures. Purchase of this product includes a limited license for research purposes.
The SALSA MLPA Probemix P395-B1 MEF2C-FOXG1 contains 42 MLPA probes with amplification products between 130 and 472 nucleotides (nt). This includes 22 probes for the MEF2C
gene, two probes targeting sequences located upstream and two probes targeting sequences located downstream of the MEF2C
gene, and five probes targeting the FOXG1
gene. In addition, 11 reference probes are included that detect autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes are available online (www.mrcholland.com
This probemix contains nine quality control fragments generating amplification products between 64 and 105 nt: four DNA Quantity fragments (Q-fragments), two DNA Denaturation fragments (D-fragments), one Benchmark fragment, and one chromosome X and one chromosome Y-specific fragment. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at www.mrcholland.com