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.