Schmid-type metaphyseal chondrodysplasia as the result of a collagen type X defect due to a novelCOL10A1nonsense mutation
β Scribed by Julia V. Woelfle; R. E. Brenner; B. Zabel; H. Reichel; M. Nelitz
- Publisher
- Springer Japan
- Year
- 2011
- Tongue
- English
- Weight
- 347 KB
- Volume
- 16
- Category
- Article
- ISSN
- 0949-2658
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Schmid metaphyseal chondrodysplasia (SMCD) is a relatively common, heritable osteochondrodysplasia characterized by short-limbed short stature with normal facies, and generalized metaphyseal dysplasias of the long and short tubular bones. Several mutations of the type X collagen gene (COL10A1) have
## Abstract Both dominantβnegative and haploinsufficiency effects have been proposed in the pathogenesis of metaphyseal chondrodysplasia type Schmid (MCDS) due to nonsense and frameβshift mutations of __COL10A1__. This study examines these alternative effects. A proband with typical earlyβonset MCD
Schmid metaphyseal chondrodysplasia (SMCD) has previously been shown to be the result of mutations in the type X collagen gene, COLlOAl. A further three mutations have been identified, including two nonsense mutations (YZ68X, W651X) and a frameshift mutation (1856delCC). Each of the 10 SMCD mutation