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Am J Med Genet A. 2005 Sep 1;137A(3):241-8.

Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations--findings in 10 patients.

Author information

1
Division of Genetics and Genomic Biology, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada. outi.makitie@helsinki.fi

Abstract

The Schmid type of metaphyseal chondrodyplasia (MCDS) is characterized by short stature, widened growth plates, and bowing of the long bones. It results from autosomal dominant mutations of COL10A1, the gene which encodes alpha1(X) chains of type X collagen. We report the clinical and radiographic findings in 10 patients with MCDS and COL10A1 mutations. Six patients had lower limb deformities, which necessitated orthopedic surgeries in all of them. One patient demonstrated no deformities and normal stature at age 11 years (height -1.2 SDS) while the others manifested severe short stature (<-3.5 SDS). Radiographs showed metaphyseal changes which were most pronounced at the hips and knees. Five of the identified 10 mutations in COL10A1 were novel. Six mutations resulted in truncation of the NC1 domain while four mutations were single amino-acid substitutions. Our findings suggest that COL10A1 mutations result in a uniform pattern of growth plate abnormalities. However, the clinical variability in severity among affected individuals is greater than previously thought.

PMID:
16088909
DOI:
10.1002/ajmg.a.30855
[Indexed for MEDLINE]

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