RGD Reference Report - Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus. - Rat Genome Database

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Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus.

Authors: McIntosh, I  Abbott, MH  Warman, ML  Olsen, BR  Francomano, CA 
Citation: McIntosh I, etal., Hum Mol Genet. 1994 Feb;3(2):303-7.
RGD ID: 1600880
Pubmed: PMID:8004099   (View Abstract at PubMed)

Type X collagen is a short chain collagen expressed in hypertrophic chondrocytes during bone growth. A 13bp deletion has been shown to segregate with Schmid metaphyseal chondrodysplasia, an autosomal dominant disorder of the osseous skeleton, in a large Mormon kindred. To increase our understanding of the role type X collagen plays in development we have used SSCP analysis to identify three additional mutations in patients with Schmid metaphyseal chondrodysplasia. Two are frameshift mutations (1856delC and 1992delCT) and one is a missense mutation (C591R). Of interest, the apparently unaffected mother of the patient with the missense mutation is a somatic mosaic for the mutant allele. All three mutations are in the carboxy-terminal non-collagenous domain suggesting that the effect of these mutations is to impair the mutant polypeptide's ability to participate in chain association and trimer formation.




  
Object Symbol
Species
Term
Qualifier
Evidence
With
Notes
Source
Original Reference(s)
COL10A1Humanosteochondrodysplasia susceptibilityIAGP Schmid metaphyseal chondrodysplasia more ...RGD 
Col10a1Ratosteochondrodysplasia susceptibilityISOCOL10A1 (Homo sapiens)Schmid metaphyseal chondrodysplasia more ...RGD 
Col10a1Mouseosteochondrodysplasia susceptibilityISOCOL10A1 (Homo sapiens)Schmid metaphyseal chondrodysplasia more ...RGD 


Genes (Rattus norvegicus)
Col10a1  (collagen type X alpha 1 chain)

Genes (Mus musculus)
Col10a1  (collagen, type X, alpha 1)

Genes (Homo sapiens)
COL10A1  (collagen type X alpha 1 chain)