Léri-Weill dyschondrosteosis. Analysis of the SHOX gene by MLPA [1 gene]

Haploinsufficiency of the SHOX gene causes a heterogeneous clinical spectrum that ranges from severe Léri-Weill dyschondrosteosis to nonspecific short stature at the milder end. In Leri-Weill dyschondrosteosis, the classic symptoms are short stature, mesomelia, and Madelung´s deformity. The short stature phenotype caused by SHOX deficiency in the absence of mesomelia and Madelung deformity is highly variable, even within the same family.

Léri-Weill dyschondrosteosis: unknown (ORPHA:240)

Pathogenic variants in SHOX may be a deletion, duplication, or insertion, and these variants may encompass the coding region of SHOX and/or the enhancer region that regulates the expression of SHOX. Therefore, a service based on an MLPA specifically for this purpose may be the approach to investigate the pathology.

The main benefit of the diagnosis in this clinical context is the indication to administer treatment with growth hormone if haploinsufficiency of the SHOX gene is confirmed.

Service indicated in the presence of a dysharmonic short stature associated with the Madelung´s deformity or in the case of an idiopathic short stature with minor signs suggestive of haploinsufficiency of the SHOX gene, such as muscular hypertrophy.

The MLPA approach allows us to detect about 90% of cases.

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Léri-Weill dyschondrosteosis. Analysis of the SHOX gene by MLPA

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Technique: MLPA

Turnaround time (TAT): 25 days

Ref. S-202110052

Léri-Weill dyschondrosteosis. Analysis of the SHOX gene by MLPA: View panel
  • SHOX

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

References

  1. Binder G, Rappold GA. SHOX Deficiency Disorders. 2005 Dec 12 [Updated 2018 Jun 28]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1215/