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SALSA MLPA Probemix P154 GPC3-GPC4

Simpson-Golabi-Behmel syndrome type 1 (SGBS1)

Region: GPC3 Xq26.2; GPC4 Xq26.2

General information
The SALSA MLPA Probemix P154 GPC3-GPC4 is a research use only (RUO) assay for the detection of deletions or duplications in the GPC3 and GPC4 genes, which are associated with Simpson-Golabi-Behmel syndrome type 1.
Simpson-Golabi-Behmel syndrome (SGBS) type 1 is an X-linked overgrowth syndrome associated with multiple congenital anomalies caused by a mutant X-linked recessive trait. Alternative names are: Bulldog syndrome; dysplasia gigantism syndrome X-linked (DGSX), Golabi-Rosen syndrome, Simpson dysmorphia syndrome (SDYS). SGBS shows a broad spectrum of clinical manifestations, varying from mild forms in carrier females to infantile lethal forms in affected males. The most consistent findings are pre- and postnatal macrosomia, characteristic coarse "bulldog-like" face and a complex assortment of congenital defects affecting the internal organs and skeleton. On some occasions, intellectual disability of variable degree is observed. SGBS is also associated with an increased risk of developing embryonal neoplasia, mostly Wilms and liver tumours. SGBS type 2 is a rarer, more lethal form with different genes involved.
SGBS type 1 is caused by mutations in the glypican 3 (GPC3) and/or glypican 4 (GPC4) genes, both located on chromosome Xq26. Around 43% of GPC3 pathogenic variants is a deletion or duplication. Alternative names for the GPC3 gene are SGBS, SGBS1, SGB and DGSX. The glypicans (GRIPS) are a family of cell surface heparan sulphate proteoglycans that are bound to the cell surface and they may play a role in the control of cell division and growth regulation. Glypicans are anchored to the peripheral membrane through glycosylphosphatidylinositol (GPI) linkage. Deletions in the GPC3 gene have been found in a number of SGBS families supplying evidence that such mutations are responsible for SGBS. Duplication of the GPC4 gene has been described in one SGBS family (Waterson et al. 2010). The tight clustering of GPC3 and GPC4 may be relevant for explaining the variability of the SGBS phenotype.
The GPC3 gene (8 exons) spans ~450 kb of genomic DNA and is located on chromosome Xq26.2, 132 Mb from the p-telomere. The GPC4 gene (9 exons) spans ~115 kb of genomic DNA and is located on chromosome Xq26.2, centromeric to GPC3.
More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1219/.

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.

Probemix content
The SALSA MLPA Probemix P154-C2 GPC3-GPC4 contains 37 MLPA probes with amplification products between 136 and 454 nucleotides (nt). This includes 26 probes for the GPC3 and GPC4 genes: two probes for each exon of the GPC3 gene (three probes for GPC3 exon 1 and one for exon 5) and one probe for each exon of the GPC4 gene (two probes for GPC4 exon 1). In addition, 11 reference probes are included that detect locations on the X-chromosome. 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.

Order Items

Probemix

Item no.
Description
Technology
Price
P154-025R
SALSA MLPA Probemix P154 GPC3-GPC4 – 25 rxn
€ 286.00
P154-050R
SALSA MLPA Probemix P154 GPC3-GPC4 – 50 rxn
€ 560.00
P154-100R
SALSA MLPA Probemix P154 GPC3-GPC4 – 100 rxn
€ 1096.00

Required Reagents (Sold Separately)

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA Reagent Kit – 100 rxn – FAM (6 vials)
€ 348.00
EK1-Cy5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
€ 348.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
€ 1600.00
EK5-Cy5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
€ 1600.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
€ 6152.00

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