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Metaphyseal dysplasia, Schmid type (MS, OMIM #156500) is a bone dysplasia that presents with autosomal dominant inheritance. MS belongs to the “Metaphyseal dysplasia” group in the “Nosology and Classification of Genetic Skeletal Disorders” (1). Its clinical symptoms include coxa vara, bowed leg, short stature, short limbs, and normal facial appearance. An orthopedic operation can be conducted for coxa vara, depending on its severity. Among MS patients, genetic mutations of the COL10A1 gene have been identified (2).  The COL10A1 gene encodes the type X collagen α1 chain. Three type X collagen α1 chains form a homotrimer. Type X collagen expresses restrictedly in hypertrophic chondrocytes during endochondral ossification, and the role of type X collagen is not entirely clear.  A large part of the pathogenic mutation in the COL10A1 gene is located in the carboxyl-terminal non-collagenous (NC1) domain and at Glycine 18 located at the boundary between the signal peptide domain and N-terminal non-collagenous (NC2) domain (3).  This report describes a familial case with MS accompanied by a previously unreported mutation, p.T555P, located on the NC1 domain of a type X collagen α1 chain.

Japanese familial case with metaphyseal dysplasia, Schmid Type caused by the p.T555P mutation in the <i>COL10A1</i> gene