General Information: The SALSA MLPA Probemix P295 SPRED1 is a
research use only (RUO) assay for the detection of deletions or duplications in the
SPRED1 gene, which is associated with Legius syndrome.
Legius syndrome (also known as Neurofibromatosis Type 1-like syndrome; NFLS) is characterised by multiple café-au-lait spots. Other features may include an abnormally large head (macrocephaly) and unusual facial characteristics. The syndrome has many symptomatic similarities with Neurofibromatosis Type I (NF1).
SPRED1 (Sprouty-related EVH1 domain containing 1) is a member of the Sprouty family of proteins that regulate growth factor-induced activation of the Ras/MAP kinase cascade. Mutations in the
SPRED1 gene cause Legius syndrome.
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK47312/.
Probemix content: The SALSA MLPA Probemix P295-B3 SPRED1 contains 38 MLPA probes with amplification products between 149 and 454 nt. This includes 23 probes for the
SPRED1 gene. Multiple probes for each of the seven exons (or probes in close proximity of the exon) of the
SPRED1 gene are included. Probes in the upstream region and several probes in intronic regions of the gene have also been included in order to facilitate the detection of breakpoints of intragenic rearrangements. In addition, 15 reference probes are included and detect 15 different autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes is available online (www.mlpa.com).
This Probemix contains nine quality control fragments generating amplification products between 64 and 121 nt: four DNA Quantity Fragments (Q-fragments), two DNA Denaturation Fragments (D-fragments), one benchmark fragment, 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.mlpa.com.