General information
The SALSA MLPA Probemix P478 SMARCE1 is a research use only (RUO) assay for the detection of deletions or duplications of the SMARCE1 gene, which are associated with familial meningioma and Coffin-Siris syndrome.

Meningiomas are slow-growing tumours that stem from the meninges. They are the most commonly occurring intracranial neoplasms, accounting for up to 30% of all brain tumours (Starr and Cha, 2017). The SMARCE1 (Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1) gene encodes a component of the SWI/SNF complex, which modulates eukaryotic gene expression and DNA repair via nucleosome remodelling. Heterozygous SMARCE1 loss-of-function mutations have been linked to familial meningioma (MIM number 607174). Partial deletions of SMARCE1 and loss of its expression have been described in spinal meningioma tissue suggesting a tumour suppressor function of this gene (Smith et al. 2013; Smith et al. 2014). Germline mutations in members of SWI/SNF complex, including SMARCE1, have been described also in Coffin-Siris syndrome (MIM number 616938) (Tsurusaki et al. 2014).

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.

Probemix content
The SALSA MLPA Probemix P478-A1 SMARCE1 contains 37 MLPA probes with amplification products between 130 and 391 nucleotides (nt). This includes 15 probes for the SMARCE1 gene at 17q21.2, as well as seven flanking probes to help determine the extent of a copy number alteration detected in a sample. In addition, 15 reference probes are included that target relatively copy number stable regions in meningioma, as well as in somatic cancer samples in general. Probe sequences and the identity of the genes detected by the reference probes are available in Table 3 of the Product Description and 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.