SCIENTIFIC BACKGROUND

COL10A1

Metaphyseal chondrodysplasia, Schmid type (MCDS) is a rare autosomal dominant inherited disorder associated with moderate short stature. It is usually diagnosed during the 2nd or 3rd year of life. The limbs are shortened, patients have coxa vara (deformed femoral neck), and bowed limbs, which leads to an unusual gait. Metaphyseal lesions are visible radiologically.

 

This is caused by variants in the COL10A1 gene, which codes for a short collagen type X. Type X collagen is probably involved locally in the organization of the extracellular matrix. Interaction with other collagens appears to be essential here. To date, around 40 independent cases with variants have been described. Almost all variants are located in the carboxy-terminal region NC1. Tissue-specific degradation of mutated mRNA has been demonstrated for some variants.

 

References

Park et al. 2015, Eur J Med Genet 58:175 / Mäkitie et al. 2010, J Orthop Res 28:1497 / Tan et al. 2008, Am J Hum Genet 82:786 / Ho et al. 2007, Hum Mol Genet 16:1201 / Makitie et al. 2005, Am J Med Genet 137:241 / Bateman et al. 2004, Hum Mutat 23:396

GENES

COL10A1
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