General information: The SALSA MLPA Probemix P186 PAX3 MITF SOX10 is a research use only (RUO) assay for the detection of deletions or duplications in the PAX3, MITF, and SOX10 genes, which are associated with Waardenburg Syndrome (WS).

Several types of WS can be caused by mutations in the MITF gene (WS2A), the PAX3 gene (WS1 / WS3) or the SOX10 gene (WS2E / WS4C). MITF transactivates the gene for tyrosinase, a key enzyme for melanogenesis, and is critically involved in melanocyte differentiation. Absence of melanocytes affects pigmentation in the skin, hair, and eyes, and hearing function in the cochlea. Therefore, hypopigmentation and hearing loss in WS2A are likely to be the results of an anomaly of melanocyte differentiation caused by MITF mutations. PAX3 and SOX10 regulate MITF, and failure of this regulation due to mutations in these genes results in the auditory-pigmentary symptoms in at least some individuals with WS1 / WS3 (PAX3) or WS2E / WS4C (SOX10).

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1531/.

Probemix content: The SALSA MLPA Probemix P186-C3 PAX3 MITF SOX10 contains 41 MLPA probes with amplification products between 130 and 472 nucleotides (nt). This includes 14 probes for the PAX3 gene, two probes for all nine exons of the gene except for exon 1 (one probe) and exon 2 (no probe), and 12 probes for the MITF gene, one probe for each of the nine exons except for exon 1 and additional four probes for exons 1 and 2 of alternative transcript variant 1 (NM_198159.3). Furthermore five probes for the SOX10 gene are included, one probe for each of the four exons and two probes for exon 4. In addition, ten 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.mlpa.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.mlpa.com.