SALSA MLPA P026 Sotos syndrome probemiximproved

application: Sotos syndrome
region: NSD1, 5q35
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version: E1

item no. description price
P026-025R SALSA MLPA P026 Sotos syndrome probemix – 25 rxn € 237
P026-050R SALSA MLPA P026 Sotos syndrome probemix – 50 rxn € 474
P026-100R SALSA MLPA P026 Sotos syndrome probemix – 100 rxn € 948
EK1-FAM SALSA MLPA EK1 reagent kit – 100 rxn - FAM € 294
EK1-Cy5 SALSA MLPA EK1 reagent kit – 100 rxn - Cy5 € 294
EK5-FAM SALSA MLPA EK5 reagent kit – 500 rxn - FAM € 1355
EK5-Cy5 SALSA MLPA EK5 reagent kit – 500 rxn - Cy5 € 1355

Please note that both a probemix and reagent kit are needed to perform MLPA.

description
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) on chromosome 5q35.2-35.3 in 90% of the patients: Sotos syndrome 1. Recently, heterozygous mutations in the NFIX gene (Nuclear Factor I, X type) on chromosome 19p13.13 were identified in a few children with the Sotos syndrome phenotype: Sotos syndrome 2. Genotype-phenotype correlations have been obtained.

The NSD1 gene (23 exons) spans ~166 kb of genomic DNA and is located on chromosome 5q35.2-35.3, ~177 Mb from the p-telomere. The P026-E1 probemix contains one probe for each exon of the NSD1 gene, one additional probe for exon 12 and one probe upstream of exon 1.
The NFIX gene (10 exons), spans ~103 kb of genomic DNA and is located on chromosome 19p13.13, ~13 Mb from the p-telomere. This P026-E1 probemix contains one probe for each exon, with the exception of exons 1 and 7. Furthermore, two additional probes for introns 1 and 8 are included in this probemix, which detect the coding sequence of transcript variant 1 of the NFIX gene (see Table 2b).
In addition, 12 reference probes are included in this probemix, detecting several different autosomal chromosomal locations.

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the aforementioned genes in a DNA sample. Heterozygous deletions of recognition sequences should give a 35-50% reduced relative peak height of the amplification product of that probe. Note that a mutation or polymorphism in the sequence detected by a probe can also cause a reduction in relative peak height, even when not located exactly on the ligation site! In addition, some probe signals are more sensitive to sample purity and small changes in experimental conditions. Therefore, deletions and duplications detected by MLPA should always be confirmed by other methods. Not all deletions and duplications detected by MLPA will be pathogenic; users should always verify the latest scientific literature when interpreting their findings. We have no information on what percentage of defects in these genes is caused by deletions/duplications of complete exons. Finally, note that most defects in this gene are expected to be small (point) mutations which will not be detected by this SALSA® MLPA® test.


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product history
version E1: Ten new probes have been added for NFIX, five NSD1 probes and ten reference probes have been replaced and one flanking probe has been removed.
version D2: One flanking probe and one reference probe have been removed, four reference probes have been replaced and the control fragments have been adjusted (QDX2).
version D1: 7 NSD1 probes and 6 reference probes have been replaced. Two extra control fragments at 100 and 105 nt have been included.
version C1: The 88 and 96 nt DNA denaturation control fragments (D-fragments) have been added. Several probes have a small change in length (+/- 1 nt).

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