Linked Life Data

9067753

Source:http://linkedlifedata.com/resource/pubmed/id/9067753

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1997-5-21
pubmed:abstractText
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 been reported in patients with SMCD, all in the C-terminal globular domain. To address whether mutations in other domains can cause SMCD, we examined the coding region of the COL10A1 gene in DNA samples from six Japanese families affected with SMCD, by direct sequencing. We detected novel mutations in three unrelated SMCD patients; one was a one-base deletion in the C-terminal globular domain and others were de novo missense mutations in the N-terminal globular domain. All three cases revealed a typical clinical phenotype for SMCD. Thus, we have demonstrated that mutations of COL10A1 in regions other than the C-terminal globular domain can cause SMCD, and the results suggest that the N-terminal globular domain also plays an important role in formation of type X collagen.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1059-7794
pubmed:author
pubmed:issnType
Print
pubmed:volume
9
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
131-5
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1997
pubmed:articleTitle
Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia.
pubmed:affiliation
Laboratory of Molecular Medicine, University of Tokyo, Japan.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't