The SALSA MLPA
Probemix P026 Sotos is a research use only (RUO)
assay for the detection of deletions or duplications in the NSD1
genes, which are associated with Sotos syndrome.
Sotos syndrome is a non-progressive neurological disorder with mental retardation, characterised by overgrowth and a distinctive craniofacial configuration. The syndrome is associated with a number of abnormalities: brain, cardiac, urogenital, musculoskeletal (scoliosis), ophthalmologic, dental and neoplastic. It is a genetic disorder due to haploinsufficiency of the NSD1
gene (Nuclear receptor-binding SET Domain protein 1). A Sotos-like phenotype has also been associated with Malan syndrome (known as Sotos syndrome 2) which is caused by deletions of the NFIX
mutations distinctly cause Malan syndrome or Marshall-Smith syndrome, Malan syndrome being associated with amongst others whole gene deletions (Klaassens et al. 2015).
gene (23 exons) spans ~166 kb of genomic DNA and is located on chromosome 5q35.3, ~177 Mb from the p-telomere. The NFIX
gene (10 exons), spans ~103 kb of genomic DNA and is located on chromosome 19p13.13, ~13 Mb from the p-telomere.
More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1479/
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 P026-E2 Sotos contains 46 MLPA probes with amplification products between 124 and 504 nucleotides (nt). This includes 25 probes for the NSD1
gene: one probe for each exon, one additional probe for exon 12 and one probe upstream of exon 1. This also includes ten probes for the NFIX
gene: one probe for each exon except exons 1 and 7 and two additional probes for introns 1 and 8. The intron probes detect the coding sequence of transcript variant 1 of the NFIX
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