The SALSA MLPA
Probemix P472 SUFU is a research use only (RUO)
assay for the detection of deletions or duplications in the SUFU
gene, which is associated with Gorlin syndrome and predisposition to several cancer types.
gene (OMIM 607035) encodes a component of the Sonic hedgehog (SHH)/Patched (PTCH) signalling pathway. Mutations in the SUFU
gene are expected to result in the same clinical phenotype as mutations in the better known PTCH1
gene (OMIM 601309). Screening for the SUFU
gene is therefore suggested when the PTCH1
gene is wildtype in patients with clinical basal cell nevus (Gorlin) syndrome (OMIM#109400). Germline mutations in the SUFU
gene are suggested to predispose to infant desmoplastic/ nodular medulloblastomas, basal cell carcinomas and meningiomas. This SUFU
susceptibility gene shows autosomal dominant inheritance with an incomplete penetrance. In addition to point mutations, both whole SUFU
gene duplications and partial SUFU
gene deletions have been described (Brugieres et al. 2012; Smith et al. 2014; Kenawy et al. 2019).
More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1151/
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 P472-A1 SUFU contains 30 MLPA probes with amplification products between 121 and 317 nucleotides (nt). This includes 15 probes for the SUFU
gene and two probes flanking the SUFU
gene. In addition, 13 reference probes are included that target relatively copy number stable regions in meningiomas and medulloblastomas. Complete probe sequences and the identity of the genes detected by the reference probes are available in Table 3 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