Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues

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Metaphyseal Chondrodysplasia Schmid Type (MCDS) [Q78.5]

OMIM numbers: 156500, 120110 (COL10A1)

Dr. rer. nat. Christoph Marschall

Scientific Background

MCDS is a rare autosomal dominant disease which is associated with moderate short stature. It is usually diagnosed within the 2nd or 3rd year of life. Extremities are shortened; patients display coxa vara and bowing of the extremities, which leads to an abnormal gait. Radiological examinations show lesions of the metaphyses.

The disease is caused by mutations in the COL10A1 gene, which encodes a short type X collagen. Type X collagen is most likely regionally involved in the organization of the extracellular matrix. Interaction with other collagens seems to be essential. So far, approx. 40 independent cases with mutations have been described. Almost all of the mutations are located in the carboxy-terminal region NC1. For some mutations, tissue-specific degradation of mutated mRNA was found.