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SALSA MLPA Probemix P018 SHOX

SALSA® MLPA® Probemix P018 SHOX detects copy number variations in the SHOX gene and its regulatory regions on Xp22.33/Yp11.32.

Specifications

Contents: 48 MLPA probes, including 21 probes targeting the SHOX region with 7 probes covering all 6 exons of SHOX transcript variant 1, 1 probe for intron 6 of the SHOXb splice variant and 13 probes for SHOX regulatory regions. There are an additional 6 probes in the PAR1 region and 8 probes targeting the X chromosome outside PAR1 regions.

Tissue: genomic DNA isolated from human peripheral whole blood or buccal swabs.

Application: disorders associated with short stature, including Leri-Weill dyschondrosteosis (LWD), Langer mesomelic dysplasia (LMD) or idiopathic short stature (ISS).

CE-marked and registered for in vitro diagnostic (IVD) use in selected territories.

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List Prices Documentation

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Contains probes for IGF1R, IGFBP3 and IGFALS involved in growth and development.

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Intended purpose

The SALSA MLPA Probemix P018 SHOX is an in vitro diagnostic (IVD) or research use only (RUO) semi-quantitative assay for the detection of deletions or duplications in the human short stature homeobox (SHOX) gene and its regulatory regions on Xp22.33/Yp11.32 in genomic DNA isolated from human peripheral whole blood specimens or buccal swabs. P018 SHOX is intended to confirm a potential cause for disorders associated with short stature, including Leri-Weill dyschondrosteosis (LWD), Langer mesomelic dysplasia (LMD) or Idiopathic short stature (ISS).

For the full intended purpose, see the product description.

Clinical background

SHOX is located in the pseudoautosomal region 1 (PAR1) on the short arm of the X and Y chromosomes. Located upstream and downstream of SHOX are highly conserved non-coding elements (CNEs), some of which have been shown to be important SHOX enhancer sequences. Mutations in SHOX or its regulatory regions cause a range of disorders associated with short stature, including LWD, LMD, and ISS, as SHOX is a known transcription factor highly expressed in tissues responsible for bone development (Benito-Sanz et al. 2012b).

LWD is a dominant skeletal disorder characterised by short stature, mesomelic shortening of the limbs, and the characteristic Madelung deformity. LMD is a more severe form of LWD and is a result of mutations in both SHOX alleles (Bertorelli et al. 2007, Campos-Barros et al. 2007, Shears et al. 2002, Zinn et al. 2002). ISS classifies individuals with a height below the third centile in whom no identifiable disorder is present. Heterozygous mutations of SHOX and/or its regulatory elements are detected in approximately 60% of LWD patients and approximately 5-15% of ISS cases. Homozygous or compound heterozygous mutations of SHOX and/or its enhancers are detected in 75% of LMD patients (Benito-Sanz et al. 2006, Benito-Sanz et al. 2012a, Chen et al. 2009, Huber et al. 2006).

In individuals with a SHOX related disorder, 70-80% of SHOX mutations are whole gene deletions, 2-6% are partial deletions, and 20-25% are point mutations (Binder 2011, Caliebe et al. 2012). Duplications have also been reported in LWD and ISS patients (Benito-Sanz et al. 2011b). The P018 SHOX probemix can detect most deletions and duplications and therefore complements sequence analysis of SHOX.

More information is available on http://www.ncbi.nlm.nih.gov/books/NBK1215/.

Regulatory status

SALSA MLPA Probemix P018 SHOX is CE-marked for in vitro diagnostic (IVD) use. This assay has also been registered for IVD use in Colombia and Israel.

This assay is for research use only (RUO) in all other territories.

Product documentation

Version G2

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P018-025R
SALSA MLPA Probemix P018 SHOX – 25 rxn
MLPA
€ 281.00
P018-050R
SALSA MLPA Probemix P018 SHOX – 50 rxn
MLPA
€ 550.00
P018-100R
SALSA MLPA Probemix P018 SHOX – 100 rxn
MLPA
€ 1075.00

Required reagents

A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA Reagent Kit – 100 rxn – FAM (6 vials)
MLPA MS-MLPA
€ 341.00
EK1-Cy5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 341.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1571.00
EK5-Cy5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1571.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6037.00

Price details & ordering

The prices above are list prices for direct orders from MRC Holland. Contact us for a quote that takes discounts and additional costs (such as shipping costs) into account. Different prices apply for orders through one of our sales partners; contact your local supplier for a quote.

More information about ordering & prices

Positive samples

Inclusion of a positive sample is usually not required, but can be useful for the analysis of your experiments. MRC Holland has very limited access to positive samples and cannot supply such samples. We recommend using positive samples from your own collection. Alternatively, you can use positive samples from an online biorepository, such as the Coriell Institute.

The commercially available positive samples below have been tested with the current (G2) version of this product and have been shown to produce useful results.

  • Coriell NA04626 (f): Heterozygous duplication affecting the probes for SHOX, the upstream and downstream SHOX area, AIFM and VAMP7.
  • Coriell NA20212 (f): Heterozygous deletion (~0.9 Mb) of the SHOX gene and the upstream and downstream SHOX area.
  • Coriell NA20217 (m): Compound heterozygous deletions: one from upstream of SHOX and SHOX, and one in the SHOX downstream area.
  • Coriell NA20218 (f): Compound heterozygous deletions: one from upstream of SHOX to downsteam of SHOX, and one from upstream of SHOX to the last probe of SHOX, resulting in a homozygous deletion of all probes for SHOX.

Resources

General MLPA resources

MLPA education

Publications

References

  • Benito-Sanz S et al. (2006). PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Léri-Weill dyschondrosteosis (LWD) probands. Hum Mutat. 27:1062.
  • Benito-Sanz S et al. (2011b). Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS). J Clin Endocrinol Metab. 96:E404-12.
  • Benito-Sanz S et al. (2012a). Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature. Eur J Hum Genet. 20:125-7.
  • Benito-Sanz S et al. (2012b). Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer. J Med Genet. 49:442-50.
  • Bertorelli R et al. (2007). The homozygous deletion of the 3' enhancer of the SHOX gene causes Langer mesomelic dysplasia. Clin Genet. 72:490-1.
  • Binder G (2011). Short stature due to SHOX deficiency: genotype, phenotype, and therapy. Horm Res Paediatr. 75:81-9.
  • Caliebe J et al. (2012). IGF1, IGF1R and SHOX mutation analysis in short children born small for gestational age and short children with normal birth size (idiopathic short stature). Horm Res Paediatr. 77:250-60.
  • Campos-Barros A et al. (2007). Compound heterozygosity of SHOX-encompassing and downstream PAR1 deletions results in Langer mesomelic dysplasia (LMD). Am J Med Genet A. 143A:933-8.
  • Chen J et al. (2009). Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain. J Med Genet. 46:834-9.
  • Huber C et al. (2006). High incidence of SHOX anomalies in individuals with short stature. J Med Genet. 43:735-9.
  • Shears DJ et al. (2002). Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation. Am J Med Genet. 110:153-7.
  • Zinn AR et al. (2002). Complete SHOX deficiency causes Langer mesomelic dysplasia. Am J Med Genet. 110:158-63.
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CE

CE-marked products are for In Vitro Diagnostic (IVD) use only in EU (candidate) member states and members of the European Free Trade Association (EFTA), and the UK.

CO

IVD-registered in Colombia.

IL

IVD-registered in Israel.